Canonical Allele Identifier: CA8690210
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs755949218
ExAC: 17:59668154 C / G
gnomAD v2: 17-59668154-C-G
gnomAD v4: 17-61590793-C-G
MyVariant Identifiers: chr17:g.59668154C>G (hg19) chr17:g.61590793C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590793C>G , CM000679.2:g.61590793C>G GRCh38
NC_000017.10:g.59668154C>G , CM000679.1:g.59668154C>G GRCh37
NC_000017.9:g.57022936C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.388G>C MANE Select ENSP00000427802.1:p.Asp130His
ENST00000521764.2:c.388G>C ENSP00000427802.1:p.Asp130His
NM_199290.3:c.388G>C NP_954984.1:p.Asp130His
NM_199290.4:c.388G>C MANE Select NP_954984.1:p.Asp130His
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