Canonical Allele Identifier: CA8690212
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs762431680
ExAC: 17:59668161 CT / C
gnomAD v2: 17-59668161-CT-C
gnomAD v4: 17-61590800-CT-C
MyVariant Identifiers: chr17:g.59668162del (hg19) chr17:g.61590801del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590802del , CM000679.2:g.61590802del GRCh38
NC_000017.10:g.59668163del , CM000679.1:g.59668163del GRCh37
NC_000017.9:g.57022945del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.380del MANE Select ENSP00000427802.1:p.Lys127ArgfsTer11
ENST00000521764.2:c.380del ENSP00000427802.1:p.Lys127ArgfsTer11
NM_199290.3:c.380del NP_954984.1:p.Lys127ArgfsTer11
NM_199290.4:c.380del MANE Select NP_954984.1:p.Lys127ArgfsTer11
Search 100 bp 5'
Search 100 bp 3'