Canonical Allele Identifier: CA400783553
Gene: NACA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590533T>A , CM000679.2:g.61590533T>A GRCh38
NC_000017.10:g.59667894T>A , CM000679.1:g.59667894T>A GRCh37
NC_000017.9:g.57022676T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.648A>T MANE Select ENSP00000427802.1:p.Ter216Tyr
ENST00000521764.2:c.648A>T ENSP00000427802.1:p.Ter216Tyr
NM_199290.3:c.648A>T NP_954984.1:p.Ter216Tyr
NM_199290.4:c.648A>T MANE Select NP_954984.1:p.Ter216Tyr