Canonical Allele Identifier: CA343691625
Gene: LAMC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183232259G>T , CM000663.2:g.183232259G>T GRCh38
NC_000001.10:g.183201394G>T , CM000663.1:g.183201394G>T GRCh37
NC_000001.9:g.181468017G>T NCBI36
NG_007079.2:g.50996G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.1930G>T MANE Select ENSP00000264144.4:p.Val644Leu
ENST00000264144.4:c.1930G>T ENSP00000264144.4:p.Val644Leu
ENST00000493293.5:c.1930G>T ENSP00000432063.1:p.Val644Leu
NM_005562.2:c.1930G>T NP_005553.2:p.Val644Leu
NM_018891.2:c.1930G>T NP_061486.2:p.Val644Leu
XM_017001273.2:c.1930G>T XP_016856762.1:p.Val644Leu
NM_005562.3:c.1930G>T MANE Select NP_005553.2:p.Val644Leu
NM_018891.3:c.1930G>T NP_061486.2:p.Val644Leu