Canonical Allele Identifier: CA7172747
Gene: DNAAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 416623
ClinVar RCV Id: RCV000463113
dbSNP Id: rs775542514

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49625893G>A , CM000676.2:g.49625893G>A GRCh38
NC_000014.8:g.50092611G>A , CM000676.1:g.50092611G>A GRCh37
NC_000014.7:g.49162361G>A NCBI36
NG_013070.1:g.14338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.2163C>T MANE Select ENSP00000298292.8:p.Ser721=
ENST00000298292.12:c.2163C>T ENSP00000298292.8:p.Ser721=
ENST00000406043.3:c.2019C>T ENSP00000384862.3:p.Ser673=
NM_001083908.1:c.2019C>T NP_001077377.1:p.Ser673=
NM_018139.2:c.2163C>T NP_060609.2:p.Ser721=
NM_001083908.2:c.2019C>T NP_001077377.1:p.Ser673=
NM_001378453.1:c.-49C>T NP_001365382.1:n.-49C>T
NM_018139.3:c.2163C>T MANE Select NP_060609.2:p.Ser721=