Canonical Allele Identifier: CA7173023

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 241283
• ClinVar RCV Id: RCV000225962 ; RCV001094080 ; RCV003967661
• dbSNP Id: rs200291432
• ExAC: 14:50101044 G / A
• gnomAD v2: 14-50101044-G-A
• gnomAD v3: 14-49634326-G-A
• gnomAD v4: 14-49634326-G-A
• MyVariant Identifiers: chr14:g.50101044G>A (hg19) ; chr14:g.49634326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49634326G>A , CM000676.2:g.49634326G>A	GRCh38
NC_000014.8:g.50101044G>A , CM000676.1:g.50101044G>A	GRCh37
NC_000014.7:g.49170794G>A	NCBI36
NG_013070.1:g.5905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.824C>T MANE Select	ENSP00000298292.8:p.Ala275Val
ENST00000298292.12:c.824C>T	ENSP00000298292.8:p.Ala275Val
ENST00000406043.3:c.824C>T	ENSP00000384862.3:p.Ala275Val
NM_001083908.1:c.824C>T	NP_001077377.1:p.Ala275Val
NM_018139.2:c.824C>T	NP_060609.2:p.Ala275Val
NM_001083908.2:c.824C>T	NP_001077377.1:p.Ala275Val
NM_018139.3:c.824C>T MANE Select	NP_060609.2:p.Ala275Val