Canonical Allele Identifier: CA1283150
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs780929539
ExAC: 1:183209181 G / A
gnomAD v2: 1-183209181-G-A
gnomAD v3: 1-183240046-G-A
gnomAD v4: 1-183240046-G-A
MyVariant Identifiers: chr1:g.183209181G>A (hg19) chr1:g.183240046G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240046G>A , CM000663.2:g.183240046G>A GRCh38
NC_000001.10:g.183209181G>A , CM000663.1:g.183209181G>A GRCh37
NC_000001.9:g.181475804G>A NCBI36
NG_007079.2:g.58783G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3076G>A MANE Select ENSP00000264144.4:p.Gly1026Arg
ENST00000264144.4:c.3076G>A ENSP00000264144.4:p.Gly1026Arg
ENST00000461729.1:n.546G>A
ENST00000493293.5:c.3076G>A ENSP00000432063.1:p.Gly1026Arg
NM_005562.2:c.3076G>A NP_005553.2:p.Gly1026Arg
NM_018891.2:c.3076G>A NP_061486.2:p.Gly1026Arg
NM_005562.3:c.3076G>A MANE Select NP_005553.2:p.Gly1026Arg
NM_018891.3:c.3076G>A NP_061486.2:p.Gly1026Arg
Search 100 bp 5'
Search 100 bp 3'