Canonical Allele Identifier: CA7172710

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 313276
• ClinVar RCV Id: RCV000307016 ; RCV001349356
• dbSNP Id: rs185361306
• ExAC: 14:50092393 G / A
• gnomAD v2: 14-50092393-G-A
• gnomAD v3: 14-49625675-G-A
• gnomAD v4: 14-49625675-G-A
• COSMIC: COSM6449614 ; COSM6449615 ; COSM6449616
• MyVariant Identifiers: chr14:g.50092393G>A (hg19) ; chr14:g.49625675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49625675G>A , CM000676.2:g.49625675G>A	GRCh38
NC_000014.8:g.50092393G>A , CM000676.1:g.50092393G>A	GRCh37
NC_000014.7:g.49162143G>A	NCBI36
NG_013070.1:g.14556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.2381C>T MANE Select	ENSP00000298292.8:p.Thr794Met
ENST00000298292.12:c.2381C>T	ENSP00000298292.8:p.Thr794Met
ENST00000406043.3:c.2237C>T	ENSP00000384862.3:p.Thr746Met
NM_001083908.1:c.2237C>T	NP_001077377.1:p.Thr746Met
NM_018139.2:c.2381C>T	NP_060609.2:p.Thr794Met
NM_001083908.2:c.2237C>T	NP_001077377.1:p.Thr746Met
NM_001378453.1:c.170C>T	NP_001365382.1:p.Thr57Met
NM_018139.3:c.2381C>T MANE Select	NP_060609.2:p.Thr794Met