Canonical Allele Identifier: CA292793847
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs373217743
gnomAD v2: 17-59668191-C-T
gnomAD v4: 17-61590830-C-T
COSMIC: COSM6003103
MyVariant Identifiers: chr17:g.59668191C>T (hg19) chr17:g.61590830C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590830C>T , CM000679.2:g.61590830C>T GRCh38
NC_000017.10:g.59668191C>T , CM000679.1:g.59668191C>T GRCh37
NC_000017.9:g.57022973C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.351G>A MANE Select ENSP00000427802.1:p.Ser117=
ENST00000521764.2:c.351G>A ENSP00000427802.1:p.Ser117=
NM_199290.3:c.351G>A NP_954984.1:p.Ser117=
NM_199290.4:c.351G>A MANE Select NP_954984.1:p.Ser117=
Search 100 bp 5'
Search 100 bp 3'