Canonical Allele Identifier: CA343670150
Gene: LAMC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183208016T>A , CM000663.2:g.183208016T>A GRCh38
NC_000001.10:g.183177151T>A , CM000663.1:g.183177151T>A GRCh37
NC_000001.9:g.181443774T>A NCBI36
NG_007079.2:g.26753T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.215T>A MANE Select ENSP00000264144.4:p.Phe72Tyr
ENST00000264144.4:c.215T>A ENSP00000264144.4:p.Phe72Tyr
ENST00000493293.5:c.215T>A ENSP00000432063.1:p.Phe72Tyr
NM_005562.2:c.215T>A NP_005553.2:p.Phe72Tyr
NM_018891.2:c.215T>A NP_061486.2:p.Phe72Tyr
XM_017001273.2:c.215T>A XP_016856762.1:p.Phe72Tyr
NM_005562.3:c.215T>A MANE Select NP_005553.2:p.Phe72Tyr
NM_018891.3:c.215T>A NP_061486.2:p.Phe72Tyr