Canonical Allele Identifier: CA400784111

Gene: NACA2

Linked Data

• MyVariant Identifiers: chr17:g.59668153T>A (hg19) ; chr17:g.61590792T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590792T>A , CM000679.2:g.61590792T>A	GRCh38
NC_000017.10:g.59668153T>A , CM000679.1:g.59668153T>A	GRCh37
NC_000017.9:g.57022935T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.389A>T MANE Select	ENSP00000427802.1:p.Asp130Val
ENST00000521764.2:c.389A>T	ENSP00000427802.1:p.Asp130Val
NM_199290.3:c.389A>T	NP_954984.1:p.Asp130Val
NM_199290.4:c.389A>T MANE Select	NP_954984.1:p.Asp130Val