Canonical Allele Identifier: CA501351207
Gene: NACA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.59667953G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590592G>T , CM000679.2:g.61590592G>T GRCh38
NC_000017.10:g.59667953G>T , CM000679.1:g.59667953G>T GRCh37
NC_000017.9:g.57022735G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.589C>A MANE Select ENSP00000427802.1:p.Arg197=
ENST00000521764.2:c.589C>A ENSP00000427802.1:p.Arg197=
NM_199290.3:c.589C>A NP_954984.1:p.Arg197=
NM_199290.4:c.589C>A MANE Select NP_954984.1:p.Arg197=