Canonical Allele Identifier: CA400784078

Gene: NACA2

Linked Data

• dbSNP Id: rs2060996568
• gnomAD v3: 17-61590777-G-A
• gnomAD v4: 17-61590777-G-A
• MyVariant Identifiers: chr17:g.59668138G>A (hg19) ; chr17:g.61590777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590777G>A , CM000679.2:g.61590777G>A	GRCh38
NC_000017.10:g.59668138G>A , CM000679.1:g.59668138G>A	GRCh37
NC_000017.9:g.57022920G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.404C>T MANE Select	ENSP00000427802.1:p.Ala135Val
ENST00000521764.2:c.404C>T	ENSP00000427802.1:p.Ala135Val
NM_199290.3:c.404C>T	NP_954984.1:p.Ala135Val
NM_199290.4:c.404C>T MANE Select	NP_954984.1:p.Ala135Val