Canonical Allele Identifier: CA501351096
Gene: NACA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.59667895T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590534T>C , CM000679.2:g.61590534T>C GRCh38
NC_000017.10:g.59667895T>C , CM000679.1:g.59667895T>C GRCh37
NC_000017.9:g.57022677T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.647A>G MANE Select ENSP00000427802.1:p.Ter216=
ENST00000521764.2:c.647A>G ENSP00000427802.1:p.Ter216=
NM_199290.3:c.647A>G NP_954984.1:p.Ter216=
NM_199290.4:c.647A>G MANE Select NP_954984.1:p.Ter216=