Canonical Allele Identifier: CA241738

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 195338
• ClinVar RCV Id: RCV000242612 ; RCV001083616 ; RCV000724055 ; RCV001109442
• dbSNP Id: rs34352773
• ExAC: 14:50094784 T / C
• gnomAD v2: 14-50094784-T-C
• gnomAD v3: 14-49628066-T-C
• gnomAD v4: 14-49628066-T-C
• MyVariant Identifiers: chr14:g.50094784T>C (hg19) ; chr14:g.49628066T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49628066T>C , CM000676.2:g.49628066T>C	GRCh38
NC_000014.8:g.50094784T>C , CM000676.1:g.50094784T>C	GRCh37
NC_000014.7:g.49164534T>C	NCBI36
NG_013070.1:g.12165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.1953A>G MANE Select	ENSP00000298292.8:p.Pro651=
ENST00000298292.12:c.1953A>G	ENSP00000298292.8:p.Pro651=
ENST00000406043.3:c.1864-2018A>G	ENSP00000384862.3:n.1864-2018A>G
NM_001083908.1:c.1864-2018A>G	NP_001077377.1:n.1864-2018A>G
NM_018139.2:c.1953A>G	NP_060609.2:p.Pro651=
NM_001083908.2:c.1864-2018A>G	NP_001077377.1:n.1864-2018A>G
NM_001378453.1:c.-204-2018A>G	NP_001365382.1:n.-204-2018A>G
NM_018139.3:c.1953A>G MANE Select	NP_060609.2:p.Pro651=