Canonical Allele Identifier: CA343691647

Gene: LAMC2

Linked Data

• MyVariant Identifiers: chr1:g.183201404C>G (hg19) ; chr1:g.183232269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183232269C>G , CM000663.2:g.183232269C>G	GRCh38
NC_000001.10:g.183201404C>G , CM000663.1:g.183201404C>G	GRCh37
NC_000001.9:g.181468027C>G	NCBI36
NG_007079.2:g.51006C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.1940C>G MANE Select	ENSP00000264144.4:p.Thr647Arg
ENST00000264144.4:c.1940C>G	ENSP00000264144.4:p.Thr647Arg
ENST00000493293.5:c.1940C>G	ENSP00000432063.1:p.Thr647Arg
NM_005562.2:c.1940C>G	NP_005553.2:p.Thr647Arg
NM_018891.2:c.1940C>G	NP_061486.2:p.Thr647Arg
XM_017001273.2:c.1940C>G	XP_016856762.1:p.Thr647Arg
NM_005562.3:c.1940C>G MANE Select	NP_005553.2:p.Thr647Arg
NM_018891.3:c.1940C>G	NP_061486.2:p.Thr647Arg