Canonical Allele Identifier: CA8690154
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs146671736
ExAC: 17:59667893 G / T
gnomAD v2: 17-59667893-G-T
gnomAD v3: 17-61590532-G-T
gnomAD v4: 17-61590532-G-T
MyVariant Identifiers: chr17:g.59667893G>T (hg19) chr17:g.61590532G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590532G>T , CM000679.2:g.61590532G>T GRCh38
NC_000017.10:g.59667893G>T , CM000679.1:g.59667893G>T GRCh37
NC_000017.9:g.57022675G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.*1C>A MANE Select ENSP00000427802.1:n.*1C>A
ENST00000521764.2:c.*1C>A ENSP00000427802.1:n.*1C>A
NM_199290.3:c.*1C>A NP_954984.1:n.*1C>A
NM_199290.4:c.*1C>A MANE Select NP_954984.1:n.*1C>A
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