Canonical Allele Identifier: CA422114102

Gene: LAMC2

Linked Data

• gnomAD v4: 1-183207978-C-T
• MyVariant Identifiers: chr1:g.183177113C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183207978C>T , CM000663.2:g.183207978C>T	GRCh38
NC_000001.10:g.183177113C>T , CM000663.1:g.183177113C>T	GRCh37
NC_000001.9:g.181443736C>T	NCBI36
NG_007079.2:g.26715C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.177C>T MANE Select	ENSP00000264144.4:p.Asn59=
ENST00000264144.4:c.177C>T	ENSP00000264144.4:p.Asn59=
ENST00000493293.5:c.177C>T	ENSP00000432063.1:p.Asn59=
NM_005562.2:c.177C>T	NP_005553.2:p.Asn59=
NM_018891.2:c.177C>T	NP_061486.2:p.Asn59=
XM_017001273.2:c.177C>T	XP_016856762.1:p.Asn59=
NM_005562.3:c.177C>T MANE Select	NP_005553.2:p.Asn59=
NM_018891.3:c.177C>T	NP_061486.2:p.Asn59=