Canonical Allele Identifier: CA343691309

Gene: LAMC2

Linked Data

• dbSNP Id: rs1659818945
• gnomAD v3: 1-183232185-A-T
• gnomAD v4: 1-183232185-A-T
• MyVariant Identifiers: chr1:g.183201320A>T (hg19) ; chr1:g.183232185A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183232185A>T , CM000663.2:g.183232185A>T	GRCh38
NC_000001.10:g.183201320A>T , CM000663.1:g.183201320A>T	GRCh37
NC_000001.9:g.181467943A>T	NCBI36
NG_007079.2:g.50922A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.1858-2A>T MANE Select	ENSP00000264144.4:n.1858-2A>T
ENST00000264144.4:c.1858-2A>T	ENSP00000264144.4:n.1858-2A>T
ENST00000493293.5:c.1858-2A>T	ENSP00000432063.1:n.1858-2A>T
NM_005562.2:c.1858-2A>T	NP_005553.2:n.1858-2A>T
NM_018891.2:c.1858-2A>T	NP_061486.2:n.1858-2A>T
XM_017001273.2:c.1858-2A>T	XP_016856762.1:n.1858-2A>T
NM_005562.3:c.1858-2A>T MANE Select	NP_005553.2:n.1858-2A>T
NM_018891.3:c.1858-2A>T	NP_061486.2:n.1858-2A>T