Canonical Allele Identifier: CA400783758
Gene: NACA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590631C>T , CM000679.2:g.61590631C>T GRCh38
NC_000017.10:g.59667992C>T , CM000679.1:g.59667992C>T GRCh37
NC_000017.9:g.57022774C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.550G>A MANE Select ENSP00000427802.1:p.Val184Ile
ENST00000521764.2:c.550G>A ENSP00000427802.1:p.Val184Ile
NM_199290.3:c.550G>A NP_954984.1:p.Val184Ile
NM_199290.4:c.550G>A MANE Select NP_954984.1:p.Val184Ile