Canonical Allele Identifier: CA400784118

Gene: NACA2

Linked Data

• MyVariant Identifiers: chr17:g.59668156T>A (hg19) ; chr17:g.61590795T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590795T>A , CM000679.2:g.61590795T>A	GRCh38
NC_000017.10:g.59668156T>A , CM000679.1:g.59668156T>A	GRCh37
NC_000017.9:g.57022938T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.386A>T MANE Select	ENSP00000427802.1:p.Gln129Leu
ENST00000521764.2:c.386A>T	ENSP00000427802.1:p.Gln129Leu
NM_199290.3:c.386A>T	NP_954984.1:p.Gln129Leu
NM_199290.4:c.386A>T MANE Select	NP_954984.1:p.Gln129Leu