Canonical Allele Identifier: CA501351194
Gene: NACA2 HGNC NCBI

Linked Data

gnomAD v4: 17-61590932-C-A
MyVariant Identifiers: chr17:g.59668293C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590932C>A , CM000679.2:g.61590932C>A GRCh38
NC_000017.10:g.59668293C>A , CM000679.1:g.59668293C>A GRCh37
NC_000017.9:g.57023075C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.249G>T MANE Select ENSP00000427802.1:p.Leu83=
ENST00000521764.2:c.249G>T ENSP00000427802.1:p.Leu83=
NM_199290.3:c.249G>T NP_954984.1:p.Leu83=
NM_199290.4:c.249G>T MANE Select NP_954984.1:p.Leu83=
Search 100 bp 5'
Search 100 bp 3'