Canonical Allele Identifier: CA7172718
Gene: DNAAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2159775
ClinVar RCV Id: RCV003086032
dbSNP Id: rs778899267

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49625718C>T , CM000676.2:g.49625718C>T GRCh38
NC_000014.8:g.50092436C>T , CM000676.1:g.50092436C>T GRCh37
NC_000014.7:g.49162186C>T NCBI36
NG_013070.1:g.14513G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.2338G>A MANE Select ENSP00000298292.8:p.Glu780Lys
ENST00000298292.12:c.2338G>A ENSP00000298292.8:p.Glu780Lys
ENST00000406043.3:c.2194G>A ENSP00000384862.3:p.Glu732Lys
NM_001083908.1:c.2194G>A NP_001077377.1:p.Glu732Lys
NM_018139.2:c.2338G>A NP_060609.2:p.Glu780Lys
NM_001083908.2:c.2194G>A NP_001077377.1:p.Glu732Lys
NM_001378453.1:c.127G>A NP_001365382.1:p.Glu43Lys
NM_018139.3:c.2338G>A MANE Select NP_060609.2:p.Glu780Lys