Canonical Allele Identifier: CA8690165
Gene: NACA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2323829
ClinVar RCV Id: RCV004167003
dbSNP Id: rs372064190
ExAC: 17:59667929 C / A
gnomAD v2: 17-59667929-C-A
gnomAD v3: 17-61590568-C-A
gnomAD v4: 17-61590568-C-A
MyVariant Identifiers: chr17:g.59667929C>A (hg19) chr17:g.61590568C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590568C>A , CM000679.2:g.61590568C>A GRCh38
NC_000017.10:g.59667929C>A , CM000679.1:g.59667929C>A GRCh37
NC_000017.9:g.57022711C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.613G>T MANE Select ENSP00000427802.1:p.Asp205Tyr
ENST00000521764.2:c.613G>T ENSP00000427802.1:p.Asp205Tyr
NM_199290.3:c.613G>T NP_954984.1:p.Asp205Tyr
NM_199290.4:c.613G>T MANE Select NP_954984.1:p.Asp205Tyr
Search 100 bp 5'
Search 100 bp 3'