Canonical Allele Identifier: CA343691600

Gene: LAMC2

Linked Data

• dbSNP Id: rs1342242994
• gnomAD v2: 1-183201382-G-C
• MyVariant Identifiers: chr1:g.183201382G>C (hg19) ; chr1:g.183232247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183232247G>C , CM000663.2:g.183232247G>C	GRCh38
NC_000001.10:g.183201382G>C , CM000663.1:g.183201382G>C	GRCh37
NC_000001.9:g.181468005G>C	NCBI36
NG_007079.2:g.50984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.1918G>C MANE Select	ENSP00000264144.4:p.Gly640Arg
ENST00000264144.4:c.1918G>C	ENSP00000264144.4:p.Gly640Arg
ENST00000493293.5:c.1918G>C	ENSP00000432063.1:p.Gly640Arg
NM_005562.2:c.1918G>C	NP_005553.2:p.Gly640Arg
NM_018891.2:c.1918G>C	NP_061486.2:p.Gly640Arg
XM_017001273.2:c.1918G>C	XP_016856762.1:p.Gly640Arg
NM_005562.3:c.1918G>C MANE Select	NP_005553.2:p.Gly640Arg
NM_018891.3:c.1918G>C	NP_061486.2:p.Gly640Arg