Canonical Allele Identifier: CA292793840
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs777652134
gnomAD v4: 17-61590796-G-C
MyVariant Identifiers: chr17:g.59668157G>C (hg19) chr17:g.61590796G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590796G>C , CM000679.2:g.61590796G>C GRCh38
NC_000017.10:g.59668157G>C , CM000679.1:g.59668157G>C GRCh37
NC_000017.9:g.57022939G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.385C>G MANE Select ENSP00000427802.1:p.Gln129Glu
ENST00000521764.2:c.385C>G ENSP00000427802.1:p.Gln129Glu
NM_199290.3:c.385C>G NP_954984.1:p.Gln129Glu
NM_199290.4:c.385C>G MANE Select NP_954984.1:p.Gln129Glu
Search 100 bp 5'
Search 100 bp 3'