Canonical Allele Identifier: CA400783678

Gene: NACA2

Linked Data

• dbSNP Id: rs772715534
• gnomAD v3: 17-61590594-A-C
• gnomAD v4: 17-61590594-A-C
• MyVariant Identifiers: chr17:g.59667955A>C (hg19) ; chr17:g.61590594A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590594A>C , CM000679.2:g.61590594A>C	GRCh38
NC_000017.10:g.59667955A>C , CM000679.1:g.59667955A>C	GRCh37
NC_000017.9:g.57022737A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.587T>G MANE Select	ENSP00000427802.1:p.Val196Gly
ENST00000521764.2:c.587T>G	ENSP00000427802.1:p.Val196Gly
NM_199290.3:c.587T>G	NP_954984.1:p.Val196Gly
NM_199290.4:c.587T>G MANE Select	NP_954984.1:p.Val196Gly