Canonical Allele Identifier: CA8690237
Gene: NACA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2310553
ClinVar RCV Id: RCV004162249
dbSNP Id: rs771662587
ExAC: 17:59668261 A / G
gnomAD v2: 17-59668261-A-G
gnomAD v3: 17-61590900-A-G
gnomAD v4: 17-61590900-A-G
MyVariant Identifiers: chr17:g.59668261A>G (hg19) chr17:g.61590900A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590900A>G , CM000679.2:g.61590900A>G GRCh38
NC_000017.10:g.59668261A>G , CM000679.1:g.59668261A>G GRCh37
NC_000017.9:g.57023043A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.281T>C MANE Select ENSP00000427802.1:p.Val94Ala
ENST00000521764.2:c.281T>C ENSP00000427802.1:p.Val94Ala
NM_199290.3:c.281T>C NP_954984.1:p.Val94Ala
NM_199290.4:c.281T>C MANE Select NP_954984.1:p.Val94Ala
Search 100 bp 5'
Search 100 bp 3'