Canonical Allele Identifier: CA8690193

Gene: NACA2

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)

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