Canonical Allele Identifier: CA7173121

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 261019
• ClinVar RCV Id: RCV000251344 ; RCV001112304 ; RCV001418278
• dbSNP Id: rs200484042
• ExAC: 14:50101484 G / T
• gnomAD v2: 14-50101484-G-T
• gnomAD v3: 14-49634766-G-T
• gnomAD v4: 14-49634766-G-T
• MyVariant Identifiers: chr14:g.50101484G>T (hg19) ; chr14:g.49634766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49634766G>T , CM000676.2:g.49634766G>T	GRCh38
NC_000014.8:g.50101484G>T , CM000676.1:g.50101484G>T	GRCh37
NC_000014.7:g.49171234G>T	NCBI36
NG_013070.1:g.5465C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.384C>A MANE Select	ENSP00000298292.8:p.Gly128=
ENST00000298292.12:c.384C>A	ENSP00000298292.8:p.Gly128=
ENST00000406043.3:c.384C>A	ENSP00000384862.3:p.Gly128=
NM_001083908.1:c.384C>A	NP_001077377.1:p.Gly128=
NM_018139.2:c.384C>A	NP_060609.2:p.Gly128=
NM_001083908.2:c.384C>A	NP_001077377.1:p.Gly128=
NM_018139.3:c.384C>A MANE Select	NP_060609.2:p.Gly128=