Canonical Allele Identifier: CA7172923

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 241280
• ClinVar RCV Id: RCV000234267 ; RCV001094235 ; RCV003389768 ; RCV003947792
• dbSNP Id: rs202079418
• ExAC: 14:50100463 A / T
• gnomAD v2: 14-50100463-A-T
• gnomAD v3: 14-49633745-A-T
• gnomAD v4: 14-49633745-A-T
• MyVariant Identifiers: chr14:g.50100463A>T (hg19) ; chr14:g.49633745A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49633745A>T , CM000676.2:g.49633745A>T	GRCh38
NC_000014.8:g.50100463A>T , CM000676.1:g.50100463A>T	GRCh37
NC_000014.7:g.49170213A>T	NCBI36
NG_013070.1:g.6486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.1405T>A MANE Select	ENSP00000298292.8:p.Cys469Ser
ENST00000298292.12:c.1405T>A	ENSP00000298292.8:p.Cys469Ser
ENST00000406043.3:c.1405T>A	ENSP00000384862.3:p.Cys469Ser
NM_001083908.1:c.1405T>A	NP_001077377.1:p.Cys469Ser
NM_018139.2:c.1405T>A	NP_060609.2:p.Cys469Ser
NM_001083908.2:c.1405T>A	NP_001077377.1:p.Cys469Ser
NM_001378453.1:c.-467T>A	NP_001365382.1:n.-467T>A
NM_018139.3:c.1405T>A MANE Select	NP_060609.2:p.Cys469Ser