Canonical Allele Identifier: CA400783575
Gene: NACA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590544A>T , CM000679.2:g.61590544A>T GRCh38
NC_000017.10:g.59667905A>T , CM000679.1:g.59667905A>T GRCh37
NC_000017.9:g.57022687A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.637T>A MANE Select ENSP00000427802.1:p.Leu213Ile
ENST00000521764.2:c.637T>A ENSP00000427802.1:p.Leu213Ile
NM_199290.3:c.637T>A NP_954984.1:p.Leu213Ile
NM_199290.4:c.637T>A MANE Select NP_954984.1:p.Leu213Ile