Canonical Allele Identifier: CA400784329
Gene: NACA2 HGNC NCBI

Linked Data

gnomAD v4: 17-61590895-T-G
MyVariant Identifiers: chr17:g.59668256T>G (hg19) chr17:g.61590895T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590895T>G , CM000679.2:g.61590895T>G GRCh38
NC_000017.10:g.59668256T>G , CM000679.1:g.59668256T>G GRCh37
NC_000017.9:g.57023038T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.286A>C MANE Select ENSP00000427802.1:p.Ile96Leu
ENST00000521764.2:c.286A>C ENSP00000427802.1:p.Ile96Leu
NM_199290.3:c.286A>C NP_954984.1:p.Ile96Leu
NM_199290.4:c.286A>C MANE Select NP_954984.1:p.Ile96Leu
Search 100 bp 5'
Search 100 bp 3'