Canonical Allele Identifier: CA8690170
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs202025009
ExAC: 17:59667952 C / T
gnomAD v2: 17-59667952-C-T
gnomAD v3: 17-61590591-C-T
gnomAD v4: 17-61590591-C-T
MyVariant Identifiers: chr17:g.59667952C>T (hg19) chr17:g.61590591C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590591C>T , CM000679.2:g.61590591C>T GRCh38
NC_000017.10:g.59667952C>T , CM000679.1:g.59667952C>T GRCh37
NC_000017.9:g.57022734C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.590G>A MANE Select ENSP00000427802.1:p.Arg197Gln
ENST00000521764.2:c.590G>A ENSP00000427802.1:p.Arg197Gln
NM_199290.3:c.590G>A NP_954984.1:p.Arg197Gln
NM_199290.4:c.590G>A MANE Select NP_954984.1:p.Arg197Gln
Search 100 bp 5'
Search 100 bp 3'