Canonical Allele Identifier: CA422113984

Gene: LAMC2

Linked Data

• ClinVar Variation Id: 1115033
• ClinVar RCV Id: RCV001442915
• dbSNP Id: rs2102196350
• MyVariant Identifiers: chr1:g.183177059G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183207924G>A , CM000663.2:g.183207924G>A	GRCh38
NC_000001.10:g.183177059G>A , CM000663.1:g.183177059G>A	GRCh37
NC_000001.9:g.181443682G>A	NCBI36
NG_007079.2:g.26661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.123G>A MANE Select	ENSP00000264144.4:p.Arg41=
ENST00000264144.4:c.123G>A	ENSP00000264144.4:p.Arg41=
ENST00000493293.5:c.123G>A	ENSP00000432063.1:p.Arg41=
NM_005562.2:c.123G>A	NP_005553.2:p.Arg41=
NM_018891.2:c.123G>A	NP_061486.2:p.Arg41=
XM_017001273.2:c.123G>A	XP_016856762.1:p.Arg41=
NM_005562.3:c.123G>A MANE Select	NP_005553.2:p.Arg41=
NM_018891.3:c.123G>A	NP_061486.2:p.Arg41=