Canonical Allele Identifier: CA343669964
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1074699
ClinVar RCV Id: RCV001388079 RCV003987858
dbSNP Id: rs2102196403
MyVariant Identifiers: chr1:g.183177072C>T (hg19) chr1:g.183207937C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183207937C>T , CM000663.2:g.183207937C>T GRCh38
NC_000001.10:g.183177072C>T , CM000663.1:g.183177072C>T GRCh37
NC_000001.9:g.181443695C>T NCBI36
NG_007079.2:g.26674C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.136C>T MANE Select ENSP00000264144.4:p.Gln46Ter
ENST00000264144.4:c.136C>T ENSP00000264144.4:p.Gln46Ter
ENST00000493293.5:c.136C>T ENSP00000432063.1:p.Gln46Ter
NM_005562.2:c.136C>T NP_005553.2:p.Gln46Ter
NM_018891.2:c.136C>T NP_061486.2:p.Gln46Ter
XM_017001273.2:c.136C>T XP_016856762.1:p.Gln46Ter
NM_005562.3:c.136C>T MANE Select NP_005553.2:p.Gln46Ter
NM_018891.3:c.136C>T NP_061486.2:p.Gln46Ter
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