Canonical Allele Identifier: CA7172746
Gene: DNAAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241282
dbSNP Id: rs80237479

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49625880T>C , CM000676.2:g.49625880T>C GRCh38
NC_000014.8:g.50092598T>C , CM000676.1:g.50092598T>C GRCh37
NC_000014.7:g.49162348T>C NCBI36
NG_013070.1:g.14351A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.2176A>G MANE Select ENSP00000298292.8:p.Thr726Ala
ENST00000298292.12:c.2176A>G ENSP00000298292.8:p.Thr726Ala
ENST00000406043.3:c.2032A>G ENSP00000384862.3:p.Thr678Ala
NM_001083908.1:c.2032A>G NP_001077377.1:p.Thr678Ala
NM_018139.2:c.2176A>G NP_060609.2:p.Thr726Ala
NM_001083908.2:c.2032A>G NP_001077377.1:p.Thr678Ala
NM_001378453.1:c.-36A>G NP_001365382.1:n.-36A>G
NM_018139.3:c.2176A>G MANE Select NP_060609.2:p.Thr726Ala