Canonical Allele Identifier: CA343662549
Gene: LAMC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243182T>G , CM000663.2:g.183243182T>G GRCh38
NC_000001.10:g.183212317T>G , CM000663.1:g.183212317T>G GRCh37
NC_000001.9:g.181478940T>G NCBI36
NG_007079.2:g.61919T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3364T>G MANE Select ENSP00000264144.4:p.Leu1122Val
ENST00000264144.4:c.3364T>G ENSP00000264144.4:p.Leu1122Val
NM_005562.2:c.3364T>G NP_005553.2:p.Leu1122Val
NM_005562.3:c.3364T>G MANE Select NP_005553.2:p.Leu1122Val