Canonical Allele Identifier: CA8690207

Gene: NACA2

Linked Data

• dbSNP Id: rs758552333
• ExAC: 17:59668139 C / T
• gnomAD v2: 17-59668139-C-T
• gnomAD v3: 17-61590778-C-T
• gnomAD v4: 17-61590778-C-T
• MyVariant Identifiers: chr17:g.59668139C>T (hg19) ; chr17:g.61590778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590778C>T , CM000679.2:g.61590778C>T	GRCh38
NC_000017.10:g.59668139C>T , CM000679.1:g.59668139C>T	GRCh37
NC_000017.9:g.57022921C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.403G>A MANE Select	ENSP00000427802.1:p.Ala135Thr
ENST00000521764.2:c.403G>A	ENSP00000427802.1:p.Ala135Thr
NM_199290.3:c.403G>A	NP_954984.1:p.Ala135Thr
NM_199290.4:c.403G>A MANE Select	NP_954984.1:p.Ala135Thr