Canonical Allele Identifier: CA400784021

Gene: NACA2

Linked Data

• dbSNP Id: rs879177143
• gnomAD v2: 17-59668111-C-G
• gnomAD v4: 17-61590750-C-G
• MyVariant Identifiers: chr17:g.59668111C>G (hg19) ; chr17:g.61590750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590750C>G , CM000679.2:g.61590750C>G	GRCh38
NC_000017.10:g.59668111C>G , CM000679.1:g.59668111C>G	GRCh37
NC_000017.9:g.57022893C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.431G>C MANE Select	ENSP00000427802.1:p.Arg144Thr
ENST00000521764.2:c.431G>C	ENSP00000427802.1:p.Arg144Thr
NM_199290.3:c.431G>C	NP_954984.1:p.Arg144Thr
NM_199290.4:c.431G>C MANE Select	NP_954984.1:p.Arg144Thr