Canonical Allele Identifier: CA7172746

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 241282
• ClinVar RCV Id: RCV000244668 ; RCV001109440 ; RCV001520875
• dbSNP Id: rs80237479
• ExAC: 14:50092598 T / C
• gnomAD v2: 14-50092598-T-C
• gnomAD v3: 14-49625880-T-C
• gnomAD v4: 14-49625880-T-C
• MyVariant Identifiers: chr14:g.50092598T>C (hg19) ; chr14:g.49625880T>C (hg38)

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