Canonical Allele Identifier: CA501351249
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs1277913378
gnomAD v2: 17-59668320-CT-C
gnomAD v4: 17-61590959-CT-C
COSMIC: COSM5972329
MyVariant Identifiers: chr17:g.59668321del (hg19) chr17:g.61590960del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590963del , CM000679.2:g.61590963del GRCh38
NC_000017.10:g.59668324del , CM000679.1:g.59668324del GRCh37
NC_000017.9:g.57023106del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.221del MANE Select ENSP00000427802.1:p.Lys74ArgfsTer?
ENST00000521764.2:c.221del ENSP00000427802.1:p.Lys74ArgfsTer?
NM_199290.3:c.221del NP_954984.1:p.Lys74ArgfsTer?
NM_199290.4:c.221del MANE Select NP_954984.1:p.Lys74ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'