Canonical Allele Identifier: CA8690245
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs762907243
ExAC: 17:59668313 G / A
gnomAD v2: 17-59668313-G-A
gnomAD v3: 17-61590952-G-A
gnomAD v4: 17-61590952-G-A
COSMIC: COSM71775
MyVariant Identifiers: chr17:g.59668313G>A (hg19) chr17:g.61590952G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590952G>A , CM000679.2:g.61590952G>A GRCh38
NC_000017.10:g.59668313G>A , CM000679.1:g.59668313G>A GRCh37
NC_000017.9:g.57023095G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.229C>T MANE Select ENSP00000427802.1:p.Arg77Trp
ENST00000521764.2:c.229C>T ENSP00000427802.1:p.Arg77Trp
NM_199290.3:c.229C>T NP_954984.1:p.Arg77Trp
NM_199290.4:c.229C>T MANE Select NP_954984.1:p.Arg77Trp
Search 100 bp 5'
Search 100 bp 3'