Canonical Allele Identifier: CA8690211
Gene: NACA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3172679
ClinVar RCV Id: RCV004463602
dbSNP Id: rs777652134
ExAC: 17:59668157 G / T
gnomAD v2: 17-59668157-G-T
gnomAD v3: 17-61590796-G-T
gnomAD v4: 17-61590796-G-T
MyVariant Identifiers: chr17:g.59668157G>T (hg19) chr17:g.61590796G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590796G>T , CM000679.2:g.61590796G>T GRCh38
NC_000017.10:g.59668157G>T , CM000679.1:g.59668157G>T GRCh37
NC_000017.9:g.57022939G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.385C>A MANE Select ENSP00000427802.1:p.Gln129Lys
ENST00000521764.2:c.385C>A ENSP00000427802.1:p.Gln129Lys
NM_199290.3:c.385C>A NP_954984.1:p.Gln129Lys
NM_199290.4:c.385C>A MANE Select NP_954984.1:p.Gln129Lys
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Search 100 bp 3'