Canonical Allele Identifier: CA8690245

Gene: NACA2

Linked Data

• dbSNP Id: rs762907243
• ExAC: 17:59668313 G / A
• gnomAD v2: 17-59668313-G-A
• gnomAD v3: 17-61590952-G-A
• gnomAD v4: 17-61590952-G-A
• COSMIC: COSM71775
• MyVariant Identifiers: chr17:g.59668313G>A (hg19) ; chr17:g.61590952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590952G>A , CM000679.2:g.61590952G>A	GRCh38
NC_000017.10:g.59668313G>A , CM000679.1:g.59668313G>A	GRCh37
NC_000017.9:g.57023095G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.229C>T MANE Select	ENSP00000427802.1:p.Arg77Trp
ENST00000521764.2:c.229C>T	ENSP00000427802.1:p.Arg77Trp
NM_199290.3:c.229C>T	NP_954984.1:p.Arg77Trp
NM_199290.4:c.229C>T MANE Select	NP_954984.1:p.Arg77Trp