Canonical Allele Identifier: CA343691408
Gene: LAMC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183232196T>G , CM000663.2:g.183232196T>G GRCh38
NC_000001.10:g.183201331T>G , CM000663.1:g.183201331T>G GRCh37
NC_000001.9:g.181467954T>G NCBI36
NG_007079.2:g.50933T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.1867T>G MANE Select ENSP00000264144.4:p.Phe623Val
ENST00000264144.4:c.1867T>G ENSP00000264144.4:p.Phe623Val
ENST00000493293.5:c.1867T>G ENSP00000432063.1:p.Phe623Val
NM_005562.2:c.1867T>G NP_005553.2:p.Phe623Val
NM_018891.2:c.1867T>G NP_061486.2:p.Phe623Val
XM_017001273.2:c.1867T>G XP_016856762.1:p.Phe623Val
NM_005562.3:c.1867T>G MANE Select NP_005553.2:p.Phe623Val
NM_018891.3:c.1867T>G NP_061486.2:p.Phe623Val