SNP Links for Protein (Select 767955058) - SNP

Links from Protein

Items: 1 to 20 of 116

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Select item 14835406571.

rs1483540657 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGA>- [Show Flanks]
Chromosome:: 9:33917177 (GRCh38)
9:33917175 (GRCh37)
Canonical SPDI:: NC_000009.12:33917174:GATGA:GA
Gene:: UBE2R2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33917177_33917179del, NC_000009.11:g.33917175_33917177del, NM_017811.4:c.657_659del, NM_017811.3:c.657_659del, XM_005251496.3:c.570_572del, XM_005251496.2:c.570_572del, XM_005251496.1:c.570_572del, XM_011517949.2:c.522_524del, XM_011517949.1:c.522_524del, XM_017014860.2:c.435_437del, XM_017014860.1:c.435_437del, XM_047423541.1:c.417_419del, NP_060281.2:p.Asp219del, XP_005251553.1:p.Asp190del, XP_011516251.1:p.Asp174del, XP_016870349.1:p.Asp145del, XP_047279497.1:p.Asp139del

Select item 14834273372.

rs1483427337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:33817800 (GRCh38)
9:33817798 (GRCh37)
Canonical SPDI:: NC_000009.12:33817799:C:G
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33817800C>G, NC_000009.11:g.33817798C>G, NM_017811.4:c.43C>G, NM_017811.3:c.43C>G, XM_005251496.3:c.43C>G, XM_005251496.2:c.43C>G, XM_005251496.1:c.43C>G, XM_011517949.2:c.43C>G, XM_011517949.1:c.43C>G, XM_017014860.2:c.43C>G, XM_017014860.1:c.43C>G, NP_060281.2:p.Leu15Val, XP_005251553.1:p.Leu15Val, XP_011516251.1:p.Leu15Val, XP_016870349.1:p.Leu15Val

Select item 14823142183.

rs1482314218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:33886904 (GRCh38)
9:33886902 (GRCh37)
Canonical SPDI:: NC_000009.12:33886903:C:G
Gene:: UBE2R2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.33886904C>G, NC_000009.11:g.33886902C>G, NM_017811.4:c.201C>G, NM_017811.3:c.201C>G, XM_011517949.2:c.201C>G, XM_011517949.1:c.201C>G, XM_047423541.1:c.-40C>G, NP_060281.2:p.Asp67Glu, XP_011516251.1:p.Asp67Glu

Select item 14773408444.

rs1477340844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:33886919 (GRCh38)
9:33886917 (GRCh37)
Canonical SPDI:: NC_000009.12:33886918:A:C
Gene:: UBE2R2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.33886919A>C, NC_000009.11:g.33886917A>C, NM_017811.4:c.216A>C, NM_017811.3:c.216A>C, XM_011517949.2:c.216A>C, XM_011517949.1:c.216A>C, XM_047423541.1:c.-25A>C

Select item 14724740525.

rs1472474052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33817772 (GRCh38)
9:33817770 (GRCh37)
Canonical SPDI:: NC_000009.12:33817771:G:A
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.33817772G>A, NC_000009.11:g.33817770G>A, NM_017811.4:c.15G>A, NM_017811.3:c.15G>A, XM_005251496.3:c.15G>A, XM_005251496.2:c.15G>A, XM_005251496.1:c.15G>A, XM_011517949.2:c.15G>A, XM_011517949.1:c.15G>A, XM_017014860.2:c.15G>A, XM_017014860.1:c.15G>A

Select item 14724462766.

rs1472446276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33817820 (GRCh38)
9:33817818 (GRCh37)
Canonical SPDI:: NC_000009.12:33817819:G:A
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000009.12:g.33817820G>A, NC_000009.11:g.33817818G>A, NM_017811.4:c.63G>A, NM_017811.3:c.63G>A, XM_005251496.3:c.63G>A, XM_005251496.2:c.63G>A, XM_005251496.1:c.63G>A, XM_011517949.2:c.63G>A, XM_011517949.1:c.63G>A, XM_017014860.2:c.63G>A, XM_017014860.1:c.63G>A

Select item 14564369397.

rs1456436939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33817916 (GRCh38)
9:33817914 (GRCh37)
Canonical SPDI:: NC_000009.12:33817915:C:T
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.33817916C>T, NC_000009.11:g.33817914C>T, NM_017811.4:c.159C>T, NM_017811.3:c.159C>T, XM_005251496.3:c.159C>T, XM_005251496.2:c.159C>T, XM_005251496.1:c.159C>T, XM_011517949.2:c.159C>T, XM_011517949.1:c.159C>T, XM_017014860.2:c.159C>T, XM_017014860.1:c.159C>T

Select item 14551758178.

rs1455175817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:33917220 (GRCh38)
9:33917218 (GRCh37)
Canonical SPDI:: NC_000009.12:33917219:G:C
Gene:: UBE2R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33917220G>C, NC_000009.11:g.33917218G>C, NM_017811.4:c.700G>C, NM_017811.3:c.700G>C, XM_005251496.3:c.613G>C, XM_005251496.2:c.613G>C, XM_005251496.1:c.613G>C, XM_011517949.2:c.565G>C, XM_011517949.1:c.565G>C, XM_017014860.2:c.478G>C, XM_017014860.1:c.478G>C, XM_047423541.1:c.460G>C, NP_060281.2:p.Gly234Arg, XP_005251553.1:p.Gly205Arg, XP_011516251.1:p.Gly189Arg, XP_016870349.1:p.Gly160Arg, XP_047279497.1:p.Gly154Arg

Select item 14342120509.

rs1434212050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33900234 (GRCh38)
9:33900232 (GRCh37)
Canonical SPDI:: NC_000009.12:33900233:C:T
Gene:: UBE2R2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33900234C>T, NC_000009.11:g.33900232C>T, NM_017811.4:c.325C>T, NM_017811.3:c.325C>T, XM_005251496.3:c.238C>T, XM_005251496.2:c.238C>T, XM_005251496.1:c.238C>T, XM_011517949.2:c.325C>T, XM_011517949.1:c.325C>T, XM_017014860.2:c.238C>T, XM_017014860.1:c.238C>T, XM_047423541.1:c.85C>T

Select item 141333139310.

rs1413331393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33817832 (GRCh38)
9:33817830 (GRCh37)
Canonical SPDI:: NC_000009.12:33817831:G:A
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.33817832G>A, NC_000009.11:g.33817830G>A, NM_017811.4:c.75G>A, NM_017811.3:c.75G>A, XM_005251496.3:c.75G>A, XM_005251496.2:c.75G>A, XM_005251496.1:c.75G>A, XM_011517949.2:c.75G>A, XM_011517949.1:c.75G>A, XM_017014860.2:c.75G>A, XM_017014860.1:c.75G>A

Select item 141131391011.

rs1411313910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33817845 (GRCh38)
9:33817843 (GRCh37)
Canonical SPDI:: NC_000009.12:33817844:A:G
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.33817845A>G, NC_000009.11:g.33817843A>G, NM_017811.4:c.88A>G, NM_017811.3:c.88A>G, XM_005251496.3:c.88A>G, XM_005251496.2:c.88A>G, XM_005251496.1:c.88A>G, XM_011517949.2:c.88A>G, XM_011517949.1:c.88A>G, XM_017014860.2:c.88A>G, XM_017014860.1:c.88A>G, NP_060281.2:p.Ile30Val, XP_005251553.1:p.Ile30Val, XP_011516251.1:p.Ile30Val, XP_016870349.1:p.Ile30Val

Select item 141019270912.

rs1410192709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33917120 (GRCh38)
9:33917118 (GRCh37)
Canonical SPDI:: NC_000009.12:33917119:C:T
Gene:: UBE2R2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33917120C>T, NC_000009.11:g.33917118C>T, NM_017811.4:c.600C>T, NM_017811.3:c.600C>T, XM_005251496.3:c.513C>T, XM_005251496.2:c.513C>T, XM_005251496.1:c.513C>T, XM_011517949.2:c.465C>T, XM_011517949.1:c.465C>T, XM_017014860.2:c.378C>T, XM_017014860.1:c.378C>T, XM_047423541.1:c.360C>T

Select item 140923838013.

rs1409238380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33917165 (GRCh38)
9:33917163 (GRCh37)
Canonical SPDI:: NC_000009.12:33917164:T:C
Gene:: UBE2R2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.33917165T>C, NC_000009.11:g.33917163T>C, NM_017811.4:c.645T>C, NM_017811.3:c.645T>C, XM_005251496.3:c.558T>C, XM_005251496.2:c.558T>C, XM_005251496.1:c.558T>C, XM_011517949.2:c.510T>C, XM_011517949.1:c.510T>C, XM_017014860.2:c.423T>C, XM_017014860.1:c.423T>C, XM_047423541.1:c.405T>C

Select item 136314223414.

rs1363142234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33900202 (GRCh38)
9:33900200 (GRCh37)
Canonical SPDI:: NC_000009.12:33900201:A:G
Gene:: UBE2R2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33900202A>G, NC_000009.11:g.33900200A>G, NM_017811.4:c.293A>G, NM_017811.3:c.293A>G, XM_005251496.3:c.206A>G, XM_005251496.2:c.206A>G, XM_005251496.1:c.206A>G, XM_011517949.2:c.293A>G, XM_011517949.1:c.293A>G, XM_017014860.2:c.206A>G, XM_017014860.1:c.206A>G, XM_047423541.1:c.53A>G, NP_060281.2:p.His98Arg, XP_005251553.1:p.His69Arg, XP_011516251.1:p.His98Arg, XP_016870349.1:p.His69Arg, XP_047279497.1:p.His18Arg

Select item 134654530115.

rs1346545301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33817901 (GRCh38)
9:33817899 (GRCh37)
Canonical SPDI:: NC_000009.12:33817900:C:T
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.33817901C>T, NC_000009.11:g.33817899C>T, NM_017811.4:c.144C>T, NM_017811.3:c.144C>T, XM_005251496.3:c.144C>T, XM_005251496.2:c.144C>T, XM_005251496.1:c.144C>T, XM_011517949.2:c.144C>T, XM_011517949.1:c.144C>T, XM_017014860.2:c.144C>T, XM_017014860.1:c.144C>T

Select item 132027230516.

rs1320272305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33917142 (GRCh38)
9:33917140 (GRCh37)
Canonical SPDI:: NC_000009.12:33917141:G:A
Gene:: UBE2R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.33917142G>A, NC_000009.11:g.33917140G>A, NM_017811.4:c.622G>A, NM_017811.3:c.622G>A, XM_005251496.3:c.535G>A, XM_005251496.2:c.535G>A, XM_005251496.1:c.535G>A, XM_011517949.2:c.487G>A, XM_011517949.1:c.487G>A, XM_017014860.2:c.400G>A, XM_017014860.1:c.400G>A, XM_047423541.1:c.382G>A, NP_060281.2:p.Asp208Asn, XP_005251553.1:p.Asp179Asn, XP_011516251.1:p.Asp163Asn, XP_016870349.1:p.Asp134Asn, XP_047279497.1:p.Asp128Asn

Select item 131511831917.

rs1315118319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33917028 (GRCh38)
9:33917026 (GRCh37)
Canonical SPDI:: NC_000009.12:33917027:T:C
Gene:: UBE2R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.33917028T>C, NC_000009.11:g.33917026T>C, NM_017811.4:c.508T>C, NM_017811.3:c.508T>C, XM_005251496.3:c.421T>C, XM_005251496.2:c.421T>C, XM_005251496.1:c.421T>C, XM_011517949.2:c.373T>C, XM_011517949.1:c.373T>C, XM_017014860.2:c.286T>C, XM_017014860.1:c.286T>C, XM_047423541.1:c.268T>C, NP_060281.2:p.Ser170Pro, XP_005251553.1:p.Ser141Pro, XP_011516251.1:p.Ser125Pro, XP_016870349.1:p.Ser96Pro, XP_047279497.1:p.Ser90Pro

Select item 131393482518.

rs1313934825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:33817787 (GRCh38)
9:33817785 (GRCh37)
Canonical SPDI:: NC_000009.12:33817786:G:A,NC_000009.12:33817786:G:T
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.33817787G>A, NC_000009.12:g.33817787G>T, NC_000009.11:g.33817785G>A, NC_000009.11:g.33817785G>T, NM_017811.4:c.30G>A, NM_017811.4:c.30G>T, NM_017811.3:c.30G>A, NM_017811.3:c.30G>T, XM_005251496.3:c.30G>A, XM_005251496.3:c.30G>T, XM_005251496.2:c.30G>A, XM_005251496.2:c.30G>T, XM_005251496.1:c.30G>A, XM_005251496.1:c.30G>T, XM_011517949.2:c.30G>A, XM_011517949.2:c.30G>T, XM_011517949.1:c.30G>A, XM_011517949.1:c.30G>T, XM_017014860.2:c.30G>A, XM_017014860.2:c.30G>T, XM_017014860.1:c.30G>A, XM_017014860.1:c.30G>T, NP_060281.2:p.Gln10His, XP_005251553.1:p.Gln10His, XP_011516251.1:p.Gln10His, XP_016870349.1:p.Gln10His

Select item 127271589019.

rs1272715890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33817904 (GRCh38)
9:33817902 (GRCh37)
Canonical SPDI:: NC_000009.12:33817903:C:T
Gene:: UBE2R2 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33817904C>T, NC_000009.11:g.33817902C>T, NM_017811.4:c.147C>T, NM_017811.3:c.147C>T, XM_005251496.3:c.147C>T, XM_005251496.2:c.147C>T, XM_005251496.1:c.147C>T, XM_011517949.2:c.147C>T, XM_011517949.1:c.147C>T, XM_017014860.2:c.147C>T, XM_017014860.1:c.147C>T

Select item 126923984720.

rs1269239847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33886913 (GRCh38)
9:33886911 (GRCh37)
Canonical SPDI:: NC_000009.12:33886912:T:C
Gene:: UBE2R2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000009.12:g.33886913T>C, NC_000009.11:g.33886911T>C, NM_017811.4:c.210T>C, NM_017811.3:c.210T>C, XM_011517949.2:c.210T>C, XM_011517949.1:c.210T>C, XM_047423541.1:c.-31T>C

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