Canonical Allele Identifier: CA7172901

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 261013
• ClinVar RCV Id: RCV000241963 ; RCV000354512 ; RCV001094152 ; RCV003884437
• dbSNP Id: rs2985688
• ExAC: 14:50100374 C / T
• gnomAD v2: 14-50100374-C-T
• gnomAD v3: 14-49633656-C-T
• gnomAD v4: 14-49633656-C-T
• MyVariant Identifiers: chr14:g.50100374C>T (hg19) ; chr14:g.49633656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49633656C>T , CM000676.2:g.49633656C>T	GRCh38
NC_000014.8:g.50100374C>T , CM000676.1:g.50100374C>T	GRCh37
NC_000014.7:g.49170124C>T	NCBI36
NG_013070.1:g.6575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.1494G>A MANE Select	ENSP00000298292.8:p.Ser498=
ENST00000298292.12:c.1494G>A	ENSP00000298292.8:p.Ser498=
ENST00000406043.3:c.1494G>A	ENSP00000384862.3:p.Ser498=
NM_001083908.1:c.1494G>A	NP_001077377.1:p.Ser498=
NM_018139.2:c.1494G>A	NP_060609.2:p.Ser498=
NM_001083908.2:c.1494G>A	NP_001077377.1:p.Ser498=
NM_001378453.1:c.-378G>A	NP_001365382.1:n.-378G>A
NM_018139.3:c.1494G>A MANE Select	NP_060609.2:p.Ser498=