Canonical Allele Identifier: CA33947095

Gene: LAMC2

Linked Data

• dbSNP Id: rs561995658
• gnomAD v3: 1-183239952-G-A
• gnomAD v4: 1-183239952-G-A
• MyVariant Identifiers: chr1:g.183209087G>A (hg19) ; chr1:g.183239952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183239952G>A , CM000663.2:g.183239952G>A	GRCh38
NC_000001.10:g.183209087G>A , CM000663.1:g.183209087G>A	GRCh37
NC_000001.9:g.181475710G>A	NCBI36
NG_007079.2:g.58689G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264144.5:c.3070-88G>A MANE Select	ENSP00000264144.4:n.3070-88G>A
ENST00000264144.4:c.3070-88G>A	ENSP00000264144.4:n.3070-88G>A
ENST00000461729.1:n.452G>A
ENST00000493293.5:c.3070-88G>A	ENSP00000432063.1:n.3070-88G>A
NM_005562.2:c.3070-88G>A	NP_005553.2:n.3070-88G>A
NM_018891.2:c.3070-88G>A	NP_061486.2:n.3070-88G>A
NM_005562.3:c.3070-88G>A MANE Select	NP_005553.2:n.3070-88G>A
NM_018891.3:c.3070-88G>A	NP_061486.2:n.3070-88G>A