SNP Links for Protein (Select 29789401) - SNP

Links from Protein

Items: 1 to 20 of 361

<< First< Prev

Page of 19

Next >Last >>

Select item 14888670741.

rs1488867074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:75878021 (GRCh38)
15:76170362 (GRCh37)
Canonical SPDI:: NC_000015.10:75878020:A:T
Gene:: UBE2Q2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/1 (TOMMO)
HGVS:: NC_000015.10:g.75878021A>T, NC_000015.9:g.76170362A>T, NM_173469.4:c.734A>T, NM_173469.3:c.734A>T, NM_173469.2:c.734A>T, XM_005254787.3:c.734A>T, XM_005254787.2:c.734A>T, XM_005254787.1:c.734A>T, XM_017022727.3:c.629A>T, XM_017022727.2:c.629A>T, XM_017022727.1:c.629A>T, NM_001284382.2:c.629A>T, NM_001284382.1:c.629A>T, XM_017022726.2:c.686A>T, XM_017022726.1:c.686A>T, NM_001145335.1:c.686A>T, XM_047433346.1:c.581A>T, XM_047433349.1:c.*37A>T, NP_775740.1:p.Lys245Met, XP_005254844.1:p.Lys245Met, XP_016878216.1:p.Lys210Met, NP_001271311.1:p.Lys210Met, XP_016878215.1:p.Lys229Met, NP_001138807.1:p.Lys229Met, XP_047289302.1:p.Lys194Met

Select item 14869152962.

rs1486915296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75843693 (GRCh38)
15:76136034 (GRCh37)
Canonical SPDI:: NC_000015.10:75843692:G:A
Gene:: UBE2Q2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.75843693G>A, NC_000015.9:g.76136034G>A, NM_173469.4:c.27G>A, NM_173469.3:c.27G>A, NM_173469.2:c.27G>A, XM_005254787.3:c.27G>A, XM_005254787.2:c.27G>A, XM_005254787.1:c.27G>A, XM_005254788.3:c.27G>A, XM_005254788.2:c.27G>A, XM_005254788.1:c.27G>A, XM_017022727.3:c.27G>A, XM_017022727.2:c.27G>A, XM_017022727.1:c.27G>A, XM_017022728.3:c.27G>A, XM_017022728.2:c.27G>A, XM_017022728.1:c.27G>A, XM_006720770.3:c.27G>A, XM_006720770.2:c.27G>A, XM_006720770.1:c.27G>A, XM_011522228.3:c.27G>A, XM_011522228.2:c.27G>A, XM_011522228.1:c.27G>A, NM_001284382.2:c.27G>A, NM_001284382.1:c.27G>A, XM_047433350.1:c.27G>A, XM_047433349.1:c.27G>A, XM_047433351.1:c.27G>A

Select item 14840195403.

rs1484019540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:75868953 (GRCh38)
15:76161294 (GRCh37)
Canonical SPDI:: NC_000015.10:75868952:T:G
Gene:: UBE2Q2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75868953T>G, NC_000015.9:g.76161294T>G, NM_173469.4:c.390T>G, NM_173469.3:c.390T>G, NM_173469.2:c.390T>G, XM_005254787.3:c.390T>G, XM_005254787.2:c.390T>G, XM_005254787.1:c.390T>G, XM_005254788.3:c.390T>G, XM_005254788.2:c.390T>G, XM_005254788.1:c.390T>G, XM_017022727.3:c.285T>G, XM_017022727.2:c.285T>G, XM_017022727.1:c.285T>G, XM_017022728.3:c.285T>G, XM_017022728.2:c.285T>G, XM_017022728.1:c.285T>G, XM_006720770.3:c.390T>G, XM_006720770.2:c.390T>G, XM_006720770.1:c.390T>G, XM_011522228.3:c.390T>G, XM_011522228.2:c.390T>G, XM_011522228.1:c.390T>G, NM_001284382.2:c.285T>G, NM_001284382.1:c.285T>G, XM_017022726.2:c.342T>G, XM_017022726.1:c.342T>G, NM_001145335.1:c.342T>G, XM_047433346.1:c.237T>G, XM_047433347.1:c.342T>G, XM_047433350.1:c.285T>G, XM_047433349.1:c.390T>G, XM_047433351.1:c.390T>G, NP_775740.1:p.Asn130Lys, XP_005254844.1:p.Asn130Lys, XP_005254845.1:p.Asn130Lys, XP_016878216.1:p.Asn95Lys, XP_016878217.1:p.Asn95Lys, XP_006720833.1:p.Asn130Lys, XP_011520530.1:p.Asn130Lys, NP_001271311.1:p.Asn95Lys, XP_016878215.1:p.Asn114Lys, NP_001138807.1:p.Asn114Lys, XP_047289302.1:p.Asn79Lys, XP_047289303.1:p.Asn114Lys, XP_047289306.1:p.Asn95Lys, XP_047289305.1:p.Asn130Lys, XP_047289307.1:p.Asn130Lys

Select item 14830710024.

rs1483071002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:75843789 (GRCh38)
15:76136130 (GRCh37)
Canonical SPDI:: NC_000015.10:75843788:G:A,NC_000015.10:75843788:G:C
Gene:: UBE2Q2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.75843789G>A, NC_000015.10:g.75843789G>C, NC_000015.9:g.76136130G>A, NC_000015.9:g.76136130G>C, NM_173469.4:c.123G>A, NM_173469.4:c.123G>C, NM_173469.3:c.123G>A, NM_173469.3:c.123G>C, NM_173469.2:c.123G>A, NM_173469.2:c.123G>C, XM_005254787.3:c.123G>A, XM_005254787.3:c.123G>C, XM_005254787.2:c.123G>A, XM_005254787.2:c.123G>C, XM_005254787.1:c.123G>A, XM_005254787.1:c.123G>C, XM_005254788.3:c.123G>A, XM_005254788.3:c.123G>C, XM_005254788.2:c.123G>A, XM_005254788.2:c.123G>C, XM_005254788.1:c.123G>A, XM_005254788.1:c.123G>C, XM_017022727.3:c.123G>A, XM_017022727.3:c.123G>C, XM_017022727.2:c.123G>A, XM_017022727.2:c.123G>C, XM_017022727.1:c.123G>A, XM_017022727.1:c.123G>C, XM_017022728.3:c.123G>A, XM_017022728.3:c.123G>C, XM_017022728.2:c.123G>A, XM_017022728.2:c.123G>C, XM_017022728.1:c.123G>A, XM_017022728.1:c.123G>C, XM_006720770.3:c.123G>A, XM_006720770.3:c.123G>C, XM_006720770.2:c.123G>A, XM_006720770.2:c.123G>C, XM_006720770.1:c.123G>A, XM_006720770.1:c.123G>C, XM_011522228.3:c.123G>A, XM_011522228.3:c.123G>C, XM_011522228.2:c.123G>A, XM_011522228.2:c.123G>C, XM_011522228.1:c.123G>A, XM_011522228.1:c.123G>C, NM_001284382.2:c.123G>A, NM_001284382.2:c.123G>C, NM_001284382.1:c.123G>A, NM_001284382.1:c.123G>C, XM_047433350.1:c.123G>A, XM_047433350.1:c.123G>C, XM_047433349.1:c.123G>A, XM_047433349.1:c.123G>C, XM_047433351.1:c.123G>A, XM_047433351.1:c.123G>C

Select item 14822381505.

rs1482238150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75854433 (GRCh38)
15:76146774 (GRCh37)
Canonical SPDI:: NC_000015.10:75854432:C:T
Gene:: UBE2Q2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75854433C>T, NC_000015.9:g.76146774C>T, NM_173469.4:c.228C>T, NM_173469.3:c.228C>T, NM_173469.2:c.228C>T, XM_005254787.3:c.228C>T, XM_005254787.2:c.228C>T, XM_005254787.1:c.228C>T, XM_005254788.3:c.228C>T, XM_005254788.2:c.228C>T, XM_005254788.1:c.228C>T, XM_017022727.3:c.228C>T, XM_017022727.2:c.228C>T, XM_017022727.1:c.228C>T, XM_017022728.3:c.228C>T, XM_017022728.2:c.228C>T, XM_017022728.1:c.228C>T, XM_006720770.3:c.228C>T, XM_006720770.2:c.228C>T, XM_006720770.1:c.228C>T, XM_011522228.3:c.228C>T, XM_011522228.2:c.228C>T, XM_011522228.1:c.228C>T, NM_001284382.2:c.228C>T, NM_001284382.1:c.228C>T, XM_017022726.2:c.180C>T, XM_017022726.1:c.180C>T, NM_001145335.1:c.180C>T, XM_047433346.1:c.180C>T, XM_047433347.1:c.180C>T, XM_047433350.1:c.228C>T, XM_047433349.1:c.228C>T, XM_047433351.1:c.228C>T

Select item 14816728176.

rs1481672817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:75883381 (GRCh38)
15:76175722 (GRCh37)
Canonical SPDI:: NC_000015.10:75883380:G:C
Gene:: UBE2Q2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75883381G>C, NC_000015.9:g.76175722G>C, NM_173469.4:c.841G>C, NM_173469.3:c.841G>C, NM_173469.2:c.841G>C, XM_005254787.3:c.841G>C, XM_005254787.2:c.841G>C, XM_005254787.1:c.841G>C, XM_005254788.3:c.604G>C, XM_005254788.2:c.604G>C, XM_005254788.1:c.604G>C, XM_017022727.3:c.736G>C, XM_017022727.2:c.736G>C, XM_017022727.1:c.736G>C, XM_017022728.3:c.499G>C, XM_017022728.2:c.499G>C, XM_017022728.1:c.499G>C, XM_006720770.3:c.604G>C, XM_006720770.2:c.604G>C, XM_006720770.1:c.604G>C, NM_001284382.2:c.736G>C, NM_001284382.1:c.736G>C, XM_017022726.2:c.793G>C, XM_017022726.1:c.793G>C, NM_001145335.1:c.793G>C, XM_047433346.1:c.688G>C, XM_047433347.1:c.556G>C, XM_047433350.1:c.499G>C, NP_775740.1:p.Asp281His, XP_005254844.1:p.Asp281His, XP_005254845.1:p.Asp202His, XP_016878216.1:p.Asp246His, XP_016878217.1:p.Asp167His, XP_006720833.1:p.Asp202His, NP_001271311.1:p.Asp246His, XP_016878215.1:p.Asp265His, NP_001138807.1:p.Asp265His, XP_047289302.1:p.Asp230His, XP_047289303.1:p.Asp186His, XP_047289306.1:p.Asp167His

Select item 14790648357.

rs1479064835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:75877995 (GRCh38)
15:76170336 (GRCh37)
Canonical SPDI:: NC_000015.10:75877994:A:G
Gene:: UBE2Q2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75877995A>G, NC_000015.9:g.76170336A>G, NM_173469.4:c.708A>G, NM_173469.3:c.708A>G, NM_173469.2:c.708A>G, XM_005254787.3:c.708A>G, XM_005254787.2:c.708A>G, XM_005254787.1:c.708A>G, XM_017022727.3:c.603A>G, XM_017022727.2:c.603A>G, XM_017022727.1:c.603A>G, NM_001284382.2:c.603A>G, NM_001284382.1:c.603A>G, XM_017022726.2:c.660A>G, XM_017022726.1:c.660A>G, NM_001145335.1:c.660A>G, XM_047433346.1:c.555A>G, XM_047433349.1:c.*11A>G

Select item 14711408328.

rs1471140832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75843832 (GRCh38)
15:76136173 (GRCh37)
Canonical SPDI:: NC_000015.10:75843831:C:T
Gene:: UBE2Q2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000015.10:g.75843832C>T, NC_000015.9:g.76136173C>T, NM_173469.4:c.166C>T, NM_173469.3:c.166C>T, NM_173469.2:c.166C>T, XM_005254787.3:c.166C>T, XM_005254787.2:c.166C>T, XM_005254787.1:c.166C>T, XM_005254788.3:c.166C>T, XM_005254788.2:c.166C>T, XM_005254788.1:c.166C>T, XM_017022727.3:c.166C>T, XM_017022727.2:c.166C>T, XM_017022727.1:c.166C>T, XM_017022728.3:c.166C>T, XM_017022728.2:c.166C>T, XM_017022728.1:c.166C>T, XM_006720770.3:c.166C>T, XM_006720770.2:c.166C>T, XM_006720770.1:c.166C>T, XM_011522228.3:c.166C>T, XM_011522228.2:c.166C>T, XM_011522228.1:c.166C>T, NM_001284382.2:c.166C>T, NM_001284382.1:c.166C>T, XM_047433350.1:c.166C>T, XM_047433349.1:c.166C>T, XM_047433351.1:c.166C>T, NP_775740.1:p.His56Tyr, XP_005254844.1:p.His56Tyr, XP_005254845.1:p.His56Tyr, XP_016878216.1:p.His56Tyr, XP_016878217.1:p.His56Tyr, XP_006720833.1:p.His56Tyr, XP_011520530.1:p.His56Tyr, NP_001271311.1:p.His56Tyr, XP_047289306.1:p.His56Tyr, XP_047289305.1:p.His56Tyr, XP_047289307.1:p.His56Tyr

Select item 14700129669.

rs1470012966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:75877983 (GRCh38)
15:76170324 (GRCh37)
Canonical SPDI:: NC_000015.10:75877982:A:G
Gene:: UBE2Q2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,synonymous_variant,terminator_codon_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75877983A>G, NC_000015.9:g.76170324A>G, NM_173469.4:c.696A>G, NM_173469.3:c.696A>G, NM_173469.2:c.696A>G, XM_005254787.3:c.696A>G, XM_005254787.2:c.696A>G, XM_005254787.1:c.696A>G, XM_017022727.3:c.591A>G, XM_017022727.2:c.591A>G, XM_017022727.1:c.591A>G, NM_001284382.2:c.591A>G, NM_001284382.1:c.591A>G, XM_017022726.2:c.648A>G, XM_017022726.1:c.648A>G, NM_001145335.1:c.648A>G, XM_047433346.1:c.543A>G, XM_047433349.1:c.611A>G, NP_775740.1:p.Ile232Met, XP_005254844.1:p.Ile232Met, XP_016878216.1:p.Ile197Met, NP_001271311.1:p.Ile197Met, XP_016878215.1:p.Ile216Met, NP_001138807.1:p.Ile216Met, XP_047289302.1:p.Ile181Met

Select item 146654667010.

rs1466546670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:75873428 (GRCh38)
15:76165769 (GRCh37)
Canonical SPDI:: NC_000015.10:75873427:G:C
Gene:: UBE2Q2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75873428G>C, NC_000015.9:g.76165769G>C, NM_173469.4:c.448G>C, NM_173469.3:c.448G>C, NM_173469.2:c.448G>C, XM_005254787.3:c.448G>C, XM_005254787.2:c.448G>C, XM_005254787.1:c.448G>C, XM_005254788.3:c.448G>C, XM_005254788.2:c.448G>C, XM_005254788.1:c.448G>C, XM_017022727.3:c.343G>C, XM_017022727.2:c.343G>C, XM_017022727.1:c.343G>C, XM_017022728.3:c.343G>C, XM_017022728.2:c.343G>C, XM_017022728.1:c.343G>C, XM_006720770.3:c.448G>C, XM_006720770.2:c.448G>C, XM_006720770.1:c.448G>C, XM_011522228.3:c.448G>C, XM_011522228.2:c.448G>C, XM_011522228.1:c.448G>C, NM_001284382.2:c.343G>C, NM_001284382.1:c.343G>C, XM_017022726.2:c.400G>C, XM_017022726.1:c.400G>C, NM_001145335.1:c.400G>C, XM_047433346.1:c.295G>C, XM_047433347.1:c.400G>C, XM_047433350.1:c.343G>C, XM_047433349.1:c.448G>C, XM_047433351.1:c.448G>C, NP_775740.1:p.Asp150His, XP_005254844.1:p.Asp150His, XP_005254845.1:p.Asp150His, XP_016878216.1:p.Asp115His, XP_016878217.1:p.Asp115His, XP_006720833.1:p.Asp150His, XP_011520530.1:p.Asp150His, NP_001271311.1:p.Asp115His, XP_016878215.1:p.Asp134His, NP_001138807.1:p.Asp134His, XP_047289302.1:p.Asp99His, XP_047289303.1:p.Asp134His, XP_047289306.1:p.Asp115His, XP_047289305.1:p.Asp150His, XP_047289307.1:p.Asp150His

Select item 146505187311.

rs1465051873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:75873450 (GRCh38)
15:76165791 (GRCh37)
Canonical SPDI:: NC_000015.10:75873449:A:G
Gene:: UBE2Q2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75873450A>G, NC_000015.9:g.76165791A>G, NM_173469.4:c.470A>G, NM_173469.3:c.470A>G, NM_173469.2:c.470A>G, XM_005254787.3:c.470A>G, XM_005254787.2:c.470A>G, XM_005254787.1:c.470A>G, XM_005254788.3:c.470A>G, XM_005254788.2:c.470A>G, XM_005254788.1:c.470A>G, XM_017022727.3:c.365A>G, XM_017022727.2:c.365A>G, XM_017022727.1:c.365A>G, XM_017022728.3:c.365A>G, XM_017022728.2:c.365A>G, XM_017022728.1:c.365A>G, XM_006720770.3:c.470A>G, XM_006720770.2:c.470A>G, XM_006720770.1:c.470A>G, XM_011522228.3:c.470A>G, XM_011522228.2:c.470A>G, XM_011522228.1:c.470A>G, NM_001284382.2:c.365A>G, NM_001284382.1:c.365A>G, XM_017022726.2:c.422A>G, XM_017022726.1:c.422A>G, NM_001145335.1:c.422A>G, XM_047433346.1:c.317A>G, XM_047433347.1:c.422A>G, XM_047433350.1:c.365A>G, XM_047433349.1:c.470A>G, XM_047433351.1:c.470A>G, NP_775740.1:p.Tyr157Cys, XP_005254844.1:p.Tyr157Cys, XP_005254845.1:p.Tyr157Cys, XP_016878216.1:p.Tyr122Cys, XP_016878217.1:p.Tyr122Cys, XP_006720833.1:p.Tyr157Cys, XP_011520530.1:p.Tyr157Cys, NP_001271311.1:p.Tyr122Cys, XP_016878215.1:p.Tyr141Cys, NP_001138807.1:p.Tyr141Cys, XP_047289302.1:p.Tyr106Cys, XP_047289303.1:p.Tyr141Cys, XP_047289306.1:p.Tyr122Cys, XP_047289305.1:p.Tyr157Cys, XP_047289307.1:p.Tyr157Cys

Select item 146428535412.

rs1464285354 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:75859943 (GRCh38)
15:76152284 (GRCh37)
Canonical SPDI:: NC_000015.10:75859942:GG:G
Gene:: UBE2Q2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75859944del, NC_000015.9:g.76152285del, NM_173469.4:c.349del, NM_173469.3:c.349del, NM_173469.2:c.349del, XM_005254787.3:c.349del, XM_005254787.2:c.349del, XM_005254787.1:c.349del, XM_005254788.3:c.349del, XM_005254788.2:c.349del, XM_005254788.1:c.349del, XM_006720770.3:c.349del, XM_006720770.2:c.349del, XM_006720770.1:c.349del, XM_011522228.3:c.349del, XM_011522228.2:c.349del, XM_011522228.1:c.349del, XM_017022726.2:c.301del, XM_017022726.1:c.301del, NM_001145335.1:c.301del, XM_047433347.1:c.301del, XM_047433349.1:c.349del, XM_047433351.1:c.349del, NP_775740.1:p.Asp117fs, XP_005254844.1:p.Asp117fs, XP_005254845.1:p.Asp117fs, XP_006720833.1:p.Asp117fs, XP_011520530.1:p.Asp117fs, XP_016878215.1:p.Asp101fs, NP_001138807.1:p.Asp101fs, XP_047289303.1:p.Asp101fs, XP_047289305.1:p.Asp117fs, XP_047289307.1:p.Asp117fs

Select item 146269503513.

rs1462695035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:75859980 (GRCh38)
15:76152321 (GRCh37)
Canonical SPDI:: NC_000015.10:75859979:C:G
Gene:: UBE2Q2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00009/1 (ALFA)
HGVS:: NC_000015.10:g.75859980C>G, NC_000015.9:g.76152321C>G, NM_173469.4:c.385C>G, NM_173469.3:c.385C>G, NM_173469.2:c.385C>G, XM_005254787.3:c.385C>G, XM_005254787.2:c.385C>G, XM_005254787.1:c.385C>G, XM_005254788.3:c.385C>G, XM_005254788.2:c.385C>G, XM_005254788.1:c.385C>G, XM_006720770.3:c.385C>G, XM_006720770.2:c.385C>G, XM_006720770.1:c.385C>G, XM_011522228.3:c.385C>G, XM_011522228.2:c.385C>G, XM_011522228.1:c.385C>G, XM_017022726.2:c.337C>G, XM_017022726.1:c.337C>G, NM_001145335.1:c.337C>G, XM_047433347.1:c.337C>G, XM_047433349.1:c.385C>G, XM_047433351.1:c.385C>G, NP_775740.1:p.Gln129Glu, XP_005254844.1:p.Gln129Glu, XP_005254845.1:p.Gln129Glu, XP_006720833.1:p.Gln129Glu, XP_011520530.1:p.Gln129Glu, XP_016878215.1:p.Gln113Glu, NP_001138807.1:p.Gln113Glu, XP_047289303.1:p.Gln113Glu, XP_047289305.1:p.Gln129Glu, XP_047289307.1:p.Gln129Glu

Select item 145677608114.

rs1456776081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:75843845 (GRCh38)
15:76136186 (GRCh37)
Canonical SPDI:: NC_000015.10:75843844:C:A,NC_000015.10:75843844:C:T
Gene:: UBE2Q2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75843845C>A, NC_000015.10:g.75843845C>T, NC_000015.9:g.76136186C>A, NC_000015.9:g.76136186C>T, NM_173469.4:c.179C>A, NM_173469.4:c.179C>T, NM_173469.3:c.179C>A, NM_173469.3:c.179C>T, NM_173469.2:c.179C>A, NM_173469.2:c.179C>T, XM_005254787.3:c.179C>A, XM_005254787.3:c.179C>T, XM_005254787.2:c.179C>A, XM_005254787.2:c.179C>T, XM_005254787.1:c.179C>A, XM_005254787.1:c.179C>T, XM_005254788.3:c.179C>A, XM_005254788.3:c.179C>T, XM_005254788.2:c.179C>A, XM_005254788.2:c.179C>T, XM_005254788.1:c.179C>A, XM_005254788.1:c.179C>T, XM_017022727.3:c.179C>A, XM_017022727.3:c.179C>T, XM_017022727.2:c.179C>A, XM_017022727.2:c.179C>T, XM_017022727.1:c.179C>A, XM_017022727.1:c.179C>T, XM_017022728.3:c.179C>A, XM_017022728.3:c.179C>T, XM_017022728.2:c.179C>A, XM_017022728.2:c.179C>T, XM_017022728.1:c.179C>A, XM_017022728.1:c.179C>T, XM_006720770.3:c.179C>A, XM_006720770.3:c.179C>T, XM_006720770.2:c.179C>A, XM_006720770.2:c.179C>T, XM_006720770.1:c.179C>A, XM_006720770.1:c.179C>T, XM_011522228.3:c.179C>A, XM_011522228.3:c.179C>T, XM_011522228.2:c.179C>A, XM_011522228.2:c.179C>T, XM_011522228.1:c.179C>A, XM_011522228.1:c.179C>T, NM_001284382.2:c.179C>A, NM_001284382.2:c.179C>T, NM_001284382.1:c.179C>A, NM_001284382.1:c.179C>T, XM_047433350.1:c.179C>A, XM_047433350.1:c.179C>T, XM_047433349.1:c.179C>A, XM_047433349.1:c.179C>T, XM_047433351.1:c.179C>A, XM_047433351.1:c.179C>T, NP_775740.1:p.Thr60Lys, NP_775740.1:p.Thr60Met, XP_005254844.1:p.Thr60Lys, XP_005254844.1:p.Thr60Met, XP_005254845.1:p.Thr60Lys, XP_005254845.1:p.Thr60Met, XP_016878216.1:p.Thr60Lys, XP_016878216.1:p.Thr60Met, XP_016878217.1:p.Thr60Lys, XP_016878217.1:p.Thr60Met, XP_006720833.1:p.Thr60Lys, XP_006720833.1:p.Thr60Met, XP_011520530.1:p.Thr60Lys, XP_011520530.1:p.Thr60Met, NP_001271311.1:p.Thr60Lys, NP_001271311.1:p.Thr60Met, XP_047289306.1:p.Thr60Lys, XP_047289306.1:p.Thr60Met, XP_047289305.1:p.Thr60Lys, XP_047289305.1:p.Thr60Met, XP_047289307.1:p.Thr60Lys, XP_047289307.1:p.Thr60Met

Select item 144738232015.

rs1447382320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:75843670 (GRCh38)
15:76136011 (GRCh37)
Canonical SPDI:: NC_000015.10:75843669:T:A
Gene:: UBE2Q2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.75843670T>A, NC_000015.9:g.76136011T>A, NM_173469.4:c.4T>A, NM_173469.3:c.4T>A, NM_173469.2:c.4T>A, XM_005254787.3:c.4T>A, XM_005254787.2:c.4T>A, XM_005254787.1:c.4T>A, XM_005254788.3:c.4T>A, XM_005254788.2:c.4T>A, XM_005254788.1:c.4T>A, XM_017022727.3:c.4T>A, XM_017022727.2:c.4T>A, XM_017022727.1:c.4T>A, XM_017022728.3:c.4T>A, XM_017022728.2:c.4T>A, XM_017022728.1:c.4T>A, XM_006720770.3:c.4T>A, XM_006720770.2:c.4T>A, XM_006720770.1:c.4T>A, XM_011522228.3:c.4T>A, XM_011522228.2:c.4T>A, XM_011522228.1:c.4T>A, NM_001284382.2:c.4T>A, NM_001284382.1:c.4T>A, XM_047433350.1:c.4T>A, XM_047433349.1:c.4T>A, XM_047433351.1:c.4T>A, NP_775740.1:p.Ser2Thr, XP_005254844.1:p.Ser2Thr, XP_005254845.1:p.Ser2Thr, XP_016878216.1:p.Ser2Thr, XP_016878217.1:p.Ser2Thr, XP_006720833.1:p.Ser2Thr, XP_011520530.1:p.Ser2Thr, NP_001271311.1:p.Ser2Thr, XP_047289306.1:p.Ser2Thr, XP_047289305.1:p.Ser2Thr, XP_047289307.1:p.Ser2Thr

Select item 144707050616.

rs1447070506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:75859935 (GRCh38)
15:76152276 (GRCh37)
Canonical SPDI:: NC_000015.10:75859934:A:G
Gene:: UBE2Q2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75859935A>G, NC_000015.9:g.76152276A>G, NM_173469.4:c.340A>G, NM_173469.3:c.340A>G, NM_173469.2:c.340A>G, XM_005254787.3:c.340A>G, XM_005254787.2:c.340A>G, XM_005254787.1:c.340A>G, XM_005254788.3:c.340A>G, XM_005254788.2:c.340A>G, XM_005254788.1:c.340A>G, XM_006720770.3:c.340A>G, XM_006720770.2:c.340A>G, XM_006720770.1:c.340A>G, XM_011522228.3:c.340A>G, XM_011522228.2:c.340A>G, XM_011522228.1:c.340A>G, XM_017022726.2:c.292A>G, XM_017022726.1:c.292A>G, NM_001145335.1:c.292A>G, XM_047433347.1:c.292A>G, XM_047433349.1:c.340A>G, XM_047433351.1:c.340A>G, NP_775740.1:p.Lys114Glu, XP_005254844.1:p.Lys114Glu, XP_005254845.1:p.Lys114Glu, XP_006720833.1:p.Lys114Glu, XP_011520530.1:p.Lys114Glu, XP_016878215.1:p.Lys98Glu, NP_001138807.1:p.Lys98Glu, XP_047289303.1:p.Lys98Glu, XP_047289305.1:p.Lys114Glu, XP_047289307.1:p.Lys114Glu

Select item 144508884517.

rs1445088845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:75854388 (GRCh38)
15:76146729 (GRCh37)
Canonical SPDI:: NC_000015.10:75854387:A:G
Gene:: UBE2Q2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.75854388A>G, NC_000015.9:g.76146729A>G, NM_173469.4:c.183A>G, NM_173469.3:c.183A>G, NM_173469.2:c.183A>G, XM_005254787.3:c.183A>G, XM_005254787.2:c.183A>G, XM_005254787.1:c.183A>G, XM_005254788.3:c.183A>G, XM_005254788.2:c.183A>G, XM_005254788.1:c.183A>G, XM_017022727.3:c.183A>G, XM_017022727.2:c.183A>G, XM_017022727.1:c.183A>G, XM_017022728.3:c.183A>G, XM_017022728.2:c.183A>G, XM_017022728.1:c.183A>G, XM_006720770.3:c.183A>G, XM_006720770.2:c.183A>G, XM_006720770.1:c.183A>G, XM_011522228.3:c.183A>G, XM_011522228.2:c.183A>G, XM_011522228.1:c.183A>G, NM_001284382.2:c.183A>G, NM_001284382.1:c.183A>G, XM_017022726.2:c.135A>G, XM_017022726.1:c.135A>G, NM_001145335.1:c.135A>G, XM_047433346.1:c.135A>G, XM_047433347.1:c.135A>G, XM_047433350.1:c.183A>G, XM_047433349.1:c.183A>G, XM_047433351.1:c.183A>G

Select item 144419942418.

rs1444199424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:75897040 (GRCh38)
15:76189381 (GRCh37)
Canonical SPDI:: NC_000015.10:75897039:G:T
Gene:: UBE2Q2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75897040G>T, NC_000015.9:g.76189381G>T, NM_173469.4:c.1075G>T, NM_173469.3:c.1075G>T, NM_173469.2:c.1075G>T, XM_005254788.3:c.838G>T, XM_005254788.2:c.838G>T, XM_005254788.1:c.838G>T, XM_017022728.3:c.733G>T, XM_017022728.2:c.733G>T, XM_017022728.1:c.733G>T, NM_001284382.2:c.970G>T, NM_001284382.1:c.970G>T, NM_001145335.1:c.1027G>T, XM_047433346.1:c.922G>T, XM_047433347.1:c.790G>T, NP_775740.1:p.Val359Leu, XP_005254845.1:p.Val280Leu, XP_016878217.1:p.Val245Leu, NP_001271311.1:p.Val324Leu, NP_001138807.1:p.Val343Leu, XP_047289302.1:p.Val308Leu, XP_047289303.1:p.Val264Leu

Select item 144309716319.

rs1443097163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:75879170 (GRCh38)
15:76171511 (GRCh37)
Canonical SPDI:: NC_000015.10:75879169:G:C
Gene:: UBE2Q2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75879170G>C, NC_000015.9:g.76171511G>C, NM_173469.4:c.807G>C, NM_173469.3:c.807G>C, NM_173469.2:c.807G>C, XM_005254787.3:c.807G>C, XM_005254787.2:c.807G>C, XM_005254787.1:c.807G>C, XM_017022727.3:c.702G>C, XM_017022727.2:c.702G>C, XM_017022727.1:c.702G>C, NM_001284382.2:c.702G>C, NM_001284382.1:c.702G>C, XM_017022726.2:c.759G>C, XM_017022726.1:c.759G>C, NM_001145335.1:c.759G>C, XM_047433346.1:c.654G>C, NP_775740.1:p.Leu269Phe, XP_005254844.1:p.Leu269Phe, XP_016878216.1:p.Leu234Phe, NP_001271311.1:p.Leu234Phe, XP_016878215.1:p.Leu253Phe, NP_001138807.1:p.Leu253Phe, XP_047289302.1:p.Leu218Phe

Select item 143927617320.

rs1439276173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75854415 (GRCh38)
15:76146756 (GRCh37)
Canonical SPDI:: NC_000015.10:75854414:G:A
Gene:: UBE2Q2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75854415G>A, NC_000015.9:g.76146756G>A, NM_173469.4:c.210G>A, NM_173469.3:c.210G>A, NM_173469.2:c.210G>A, XM_005254787.3:c.210G>A, XM_005254787.2:c.210G>A, XM_005254787.1:c.210G>A, XM_005254788.3:c.210G>A, XM_005254788.2:c.210G>A, XM_005254788.1:c.210G>A, XM_017022727.3:c.210G>A, XM_017022727.2:c.210G>A, XM_017022727.1:c.210G>A, XM_017022728.3:c.210G>A, XM_017022728.2:c.210G>A, XM_017022728.1:c.210G>A, XM_006720770.3:c.210G>A, XM_006720770.2:c.210G>A, XM_006720770.1:c.210G>A, XM_011522228.3:c.210G>A, XM_011522228.2:c.210G>A, XM_011522228.1:c.210G>A, NM_001284382.2:c.210G>A, NM_001284382.1:c.210G>A, XM_017022726.2:c.162G>A, XM_017022726.1:c.162G>A, NM_001145335.1:c.162G>A, XM_047433346.1:c.162G>A, XM_047433347.1:c.162G>A, XM_047433350.1:c.210G>A, XM_047433349.1:c.210G>A, XM_047433351.1:c.210G>A, NP_775740.1:p.Trp70Ter, XP_005254844.1:p.Trp70Ter, XP_005254845.1:p.Trp70Ter, XP_016878216.1:p.Trp70Ter, XP_016878217.1:p.Trp70Ter, XP_006720833.1:p.Trp70Ter, XP_011520530.1:p.Trp70Ter, NP_001271311.1:p.Trp70Ter, XP_016878215.1:p.Trp54Ter, NP_001138807.1:p.Trp54Ter, XP_047289302.1:p.Trp54Ter, XP_047289303.1:p.Trp54Ter, XP_047289306.1:p.Trp70Ter, XP_047289305.1:p.Trp70Ter, XP_047289307.1:p.Trp70Ter

<< First< Prev

Page of 19

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 361

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity