SNP Links for Protein (Select 31044432) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33788400 (GRCh38)
6:33756177 (GRCh37)
Canonical SPDI:: NC_000006.12:33788399:C:T
Gene:: LEMD2 (Varview), LOC105375024 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33788400C>T, NC_000006.11:g.33756177C>T, NG_053042.1:g.10875G>A, NM_181336.4:c.717G>A, NM_181336.3:c.717G>A, XM_017010437.2:c.717G>A, XM_017010437.1:c.906G>A, XM_047418349.1:c.717G>A

Select item 147321858815.

rs1473218588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33788699 (GRCh38)
6:33756476 (GRCh37)
Canonical SPDI:: NC_000006.12:33788698:C:T
Gene:: LEMD2 (Varview), LOC105375024 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33788699C>T, NC_000006.11:g.33756476C>T, NG_053042.1:g.10576G>A, NM_181336.4:c.418G>A, NM_181336.3:c.418G>A, XM_017010437.2:c.418G>A, XM_017010437.1:c.607G>A, XM_047418349.1:c.418G>A, NP_851853.1:p.Glu140Lys, XP_016865926.2:p.Glu140Lys, XP_047274305.1:p.Glu140Lys

Select item 147278049616.

rs1472780496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33788916 (GRCh38)
6:33756693 (GRCh37)
Canonical SPDI:: NC_000006.12:33788915:C:G
Gene:: LEMD2 (Varview), LOC105375024 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33788916C>G, NC_000006.11:g.33756693C>G, NG_053042.1:g.10359G>C, NM_181336.4:c.201G>C, NM_181336.3:c.201G>C, NM_001348709.2:c.-312G>C, NM_001348709.1:c.-312G>C, NM_001348710.2:c.201G>C, NM_001348710.1:c.201G>C, XM_017010437.2:c.201G>C, XM_017010437.1:c.390G>C, XM_047418349.1:c.201G>C

Select item 147251295017.

rs1472512950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:33777211 (GRCh38)
6:33744988 (GRCh37)
Canonical SPDI:: NC_000006.12:33777210:A:C
Gene:: LEMD2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33777211A>C, NC_000006.11:g.33744988A>C, NG_053042.1:g.22064T>G, NM_181336.4:c.1185T>G, NM_181336.3:c.1185T>G, NM_001348709.2:c.279T>G, NM_001348709.1:c.279T>G, NM_001348710.2:c.786T>G, NM_001348710.1:c.786T>G, NM_001143944.1:c.279T>G, NP_851853.1:p.Ile395Met, NP_001335638.1:p.Ile93Met, NP_001335639.1:p.Ile262Met, NP_001137416.1:p.Ile93Met

Select item 147003444318.

rs1470034443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33788657 (GRCh38)
6:33756434 (GRCh37)
Canonical SPDI:: NC_000006.12:33788656:C:T
Gene:: LEMD2 (Varview), LOC105375024 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.33788657C>T, NC_000006.11:g.33756434C>T, NG_053042.1:g.10618G>A, NM_181336.4:c.460G>A, NM_181336.3:c.460G>A, XM_017010437.2:c.460G>A, XM_017010437.1:c.649G>A, XM_047418349.1:c.460G>A, NP_851853.1:p.Gly154Ser, XP_016865926.2:p.Gly154Ser, XP_047274305.1:p.Gly154Ser

Select item 146692251519.

rs1466922515 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGCGTCC>- [Show Flanks]
Chromosome:: 6:33788681 (GRCh38)
6:33756458 (GRCh37)
Canonical SPDI:: NC_000006.12:33788671:CGGGCGTCCGGGCGTCC:CGGGCGTCC
Gene:: LEMD2 (Varview), LOC105375024 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGGCGTCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33788673GGGCGTCC[1], NC_000006.11:g.33756450GGGCGTCC[1], NG_053042.1:g.10588GACGCCCG[1], NM_181336.4:c.438_445del, NM_181336.3:c.438_445del, XM_017010437.2:c.438_445del, XM_017010437.1:c.627_634del, XM_047418349.1:c.438_445del, NP_851853.1:p.Thr147fs, XP_016865926.2:p.Thr147fs, XP_047274305.1:p.Thr147fs

Select item 146657612520.

rs1466576125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33786744 (GRCh38)
6:33754521 (GRCh37)
Canonical SPDI:: NC_000006.12:33786743:T:C
Gene:: LEMD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33786744T>C, NC_000006.11:g.33754521T>C, NG_053042.1:g.12531A>G, NM_181336.4:c.767A>G, NM_181336.3:c.767A>G, NM_001348709.2:c.-140A>G, NM_001348709.1:c.-140A>G, NM_001348710.2:c.368A>G, NM_001348710.1:c.368A>G, NM_001143944.1:c.-140A>G, XM_017010437.2:c.767A>G, XM_017010437.1:c.956A>G, NP_851853.1:p.Lys256Arg, NP_001335639.1:p.Lys123Arg, XP_016865926.2:p.Lys256Arg

<< First< Prev

dbSNP