Canonical Allele Identifier: CA8690235
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs778447481
ExAC: 17:59668243 T / C
gnomAD v2: 17-59668243-T-C
gnomAD v4: 17-61590882-T-C
MyVariant Identifiers: chr17:g.59668243T>C (hg19) chr17:g.61590882T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590882T>C , CM000679.2:g.61590882T>C GRCh38
NC_000017.10:g.59668243T>C , CM000679.1:g.59668243T>C GRCh37
NC_000017.9:g.57023025T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.299A>G MANE Select ENSP00000427802.1:p.Lys100Arg
ENST00000521764.2:c.299A>G ENSP00000427802.1:p.Lys100Arg
NM_199290.3:c.299A>G NP_954984.1:p.Lys100Arg
NM_199290.4:c.299A>G MANE Select NP_954984.1:p.Lys100Arg
Search 100 bp 5'
Search 100 bp 3'