Canonical Allele Identifier: CA8690193
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs769250946
ExAC: 17:59668068 CT / C
gnomAD v2: 17-59668068-CT-C
gnomAD v3: 17-61590707-CT-C
gnomAD v4: 17-61590707-CT-C
MyVariant Identifiers: chr17:g.59668069del (hg19) chr17:g.61590708del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590708del , CM000679.2:g.61590708del GRCh38
NC_000017.10:g.59668069del , CM000679.1:g.59668069del GRCh37
NC_000017.9:g.57022851del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.473del MANE Select ENSP00000427802.1:p.Gln158ArgfsTer19
ENST00000521764.2:c.473del ENSP00000427802.1:p.Gln158ArgfsTer19
NM_199290.3:c.473del NP_954984.1:p.Gln158ArgfsTer19
NM_199290.4:c.473del MANE Select NP_954984.1:p.Gln158ArgfsTer19
Search 100 bp 5'
Search 100 bp 3'