Canonical Allele Identifier: CA400783680

Gene: NACA2

Linked Data

• MyVariant Identifiers: chr17:g.59667956C>A (hg19) ; chr17:g.61590595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590595C>A , CM000679.2:g.61590595C>A	GRCh38
NC_000017.10:g.59667956C>A , CM000679.1:g.59667956C>A	GRCh37
NC_000017.9:g.57022738C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.586G>T MANE Select	ENSP00000427802.1:p.Val196Phe
ENST00000521764.2:c.586G>T	ENSP00000427802.1:p.Val196Phe
NM_199290.3:c.586G>T	NP_954984.1:p.Val196Phe
NM_199290.4:c.586G>T MANE Select	NP_954984.1:p.Val196Phe