Canonical Allele Identifier: CA292793848

Gene: NACA2

Linked Data

• dbSNP Id: rs758594535
• gnomAD v2: 17-59668211-C-T
• COSMIC: COSM385438
• MyVariant Identifiers: chr17:g.59668211C>T (hg19) ; chr17:g.61590850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590850C>T , CM000679.2:g.61590850C>T	GRCh38
NC_000017.10:g.59668211C>T , CM000679.1:g.59668211C>T	GRCh37
NC_000017.9:g.57022993C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.331G>A MANE Select	ENSP00000427802.1:p.Val111Ile
ENST00000521764.2:c.331G>A	ENSP00000427802.1:p.Val111Ile
NM_199290.3:c.331G>A	NP_954984.1:p.Val111Ile
NM_199290.4:c.331G>A MANE Select	NP_954984.1:p.Val111Ile