Canonical Allele Identifier: CA292793840

Gene: NACA2

Linked Data

• dbSNP Id: rs777652134
• gnomAD v4: 17-61590796-G-C
• MyVariant Identifiers: chr17:g.59668157G>C (hg19) ; chr17:g.61590796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590796G>C , CM000679.2:g.61590796G>C	GRCh38
NC_000017.10:g.59668157G>C , CM000679.1:g.59668157G>C	GRCh37
NC_000017.9:g.57022939G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.385C>G MANE Select	ENSP00000427802.1:p.Gln129Glu
ENST00000521764.2:c.385C>G	ENSP00000427802.1:p.Gln129Glu
NM_199290.3:c.385C>G	NP_954984.1:p.Gln129Glu
NM_199290.4:c.385C>G MANE Select	NP_954984.1:p.Gln129Glu