Canonical Allele Identifier: CA1283159
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2085543
ClinVar RCV Id: RCV003005121
dbSNP Id: rs141679163
ExAC: 1:183209214 G / T
gnomAD v2: 1-183209214-G-T
gnomAD v3: 1-183240079-G-T
gnomAD v4: 1-183240079-G-T
MyVariant Identifiers: chr1:g.183209214G>T (hg19) chr1:g.183240079G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240079G>T , CM000663.2:g.183240079G>T GRCh38
NC_000001.10:g.183209214G>T , CM000663.1:g.183209214G>T GRCh37
NC_000001.9:g.181475837G>T NCBI36
NG_007079.2:g.58816G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3109G>T MANE Select ENSP00000264144.4:p.Asp1037Tyr
ENST00000264144.4:c.3109G>T ENSP00000264144.4:p.Asp1037Tyr
ENST00000461729.1:n.579G>T
ENST00000493293.5:c.3109G>T ENSP00000432063.1:p.Asp1037Tyr
NM_005562.2:c.3109G>T NP_005553.2:p.Asp1037Tyr
NM_018891.2:c.3109G>T NP_061486.2:p.Asp1037Tyr
NM_005562.3:c.3109G>T MANE Select NP_005553.2:p.Asp1037Tyr
NM_018891.3:c.3109G>T NP_061486.2:p.Asp1037Tyr
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