Canonical Allele Identifier: CA343691635

Gene: LAMC2

Linked Data

• dbSNP Id: rs1659821916
• gnomAD v4: 1-183232265-G-C
• MyVariant Identifiers: chr1:g.183201400G>C (hg19) ; chr1:g.183232265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183232265G>C , CM000663.2:g.183232265G>C	GRCh38
NC_000001.10:g.183201400G>C , CM000663.1:g.183201400G>C	GRCh37
NC_000001.9:g.181468023G>C	NCBI36
NG_007079.2:g.51002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.1936G>C MANE Select	ENSP00000264144.4:p.Asp646His
ENST00000264144.4:c.1936G>C	ENSP00000264144.4:p.Asp646His
ENST00000493293.5:c.1936G>C	ENSP00000432063.1:p.Asp646His
NM_005562.2:c.1936G>C	NP_005553.2:p.Asp646His
NM_018891.2:c.1936G>C	NP_061486.2:p.Asp646His
XM_017001273.2:c.1936G>C	XP_016856762.1:p.Asp646His
NM_005562.3:c.1936G>C MANE Select	NP_005553.2:p.Asp646His
NM_018891.3:c.1936G>C	NP_061486.2:p.Asp646His