Canonical Allele Identifier: CA8690160
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs748855718
ExAC: 17:59667918 A / AT
gnomAD v2: 17-59667918-A-AT
gnomAD v3: 17-61590557-A-AT
gnomAD v4: 17-61590557-A-AT
MyVariant Identifiers: chr17:g.59667918_59667919insT (hg19) chr17:g.61590557_61590558insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590560dup , CM000679.2:g.61590560dup GRCh38
NC_000017.10:g.59667921dup , CM000679.1:g.59667921dup GRCh37
NC_000017.9:g.57022703dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.623dup MANE Select ENSP00000427802.1:p.Asn208LysfsTer12
ENST00000521764.2:c.623dup ENSP00000427802.1:p.Asn208LysfsTer12
NM_199290.3:c.623dup NP_954984.1:p.Asn208LysfsTer12
NM_199290.4:c.623dup MANE Select NP_954984.1:p.Asn208LysfsTer12
Search 100 bp 5'
Search 100 bp 3'