Canonical Allele Identifier: CA8690156

Gene: NACA2

Linked Data

• dbSNP Id: rs201438005
• ExAC: 17:59667898 A / G
• gnomAD v2: 17-59667898-A-G
• gnomAD v3: 17-61590537-A-G
• gnomAD v4: 17-61590537-A-G
• MyVariant Identifiers: chr17:g.59667898A>G (hg19) ; chr17:g.61590537A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590537A>G , CM000679.2:g.61590537A>G	GRCh38
NC_000017.10:g.59667898A>G , CM000679.1:g.59667898A>G	GRCh37
NC_000017.9:g.57022680A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.644T>C MANE Select	ENSP00000427802.1:p.Val215Ala
ENST00000521764.2:c.644T>C	ENSP00000427802.1:p.Val215Ala
NM_199290.3:c.644T>C	NP_954984.1:p.Val215Ala
NM_199290.4:c.644T>C MANE Select	NP_954984.1:p.Val215Ala