Canonical Allele Identifier: CA292793834

Gene: NACA2

Linked Data

• dbSNP Id: rs879169193
• gnomAD v4: 17-61590729-C-G
• COSMIC: COSM5621329
• MyVariant Identifiers: chr17:g.59668090C>G (hg19) ; chr17:g.61590729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590729C>G , CM000679.2:g.61590729C>G	GRCh38
NC_000017.10:g.59668090C>G , CM000679.1:g.59668090C>G	GRCh37
NC_000017.9:g.57022872C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.452G>C MANE Select	ENSP00000427802.1:p.Gly151Ala
ENST00000521764.2:c.452G>C	ENSP00000427802.1:p.Gly151Ala
NM_199290.3:c.452G>C	NP_954984.1:p.Gly151Ala
NM_199290.4:c.452G>C MANE Select	NP_954984.1:p.Gly151Ala