Canonical Allele Identifier: CA339159

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 216704
• ClinVar RCV Id: RCV000200209 ; RCV000252552 ; RCV001094201
• dbSNP Id: rs577796590
• ExAC: 14:50101848 G / A
• gnomAD v2: 14-50101848-G-A
• gnomAD v3: 14-49635130-G-A
• gnomAD v4: 14-49635130-G-A
• MyVariant Identifiers: chr14:g.50101848G>A (hg19) ; chr14:g.49635130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49635130G>A , CM000676.2:g.49635130G>A	GRCh38
NC_000014.8:g.50101848G>A , CM000676.1:g.50101848G>A	GRCh37
NC_000014.7:g.49171598G>A	NCBI36
NG_013070.1:g.5101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.20C>T MANE Select	ENSP00000298292.8:p.Ser7Phe
ENST00000298292.12:c.20C>T	ENSP00000298292.8:p.Ser7Phe
ENST00000406043.3:c.20C>T	ENSP00000384862.3:p.Ser7Phe
NM_001083908.1:c.20C>T	NP_001077377.1:p.Ser7Phe
NM_018139.2:c.20C>T	NP_060609.2:p.Ser7Phe
NM_001083908.2:c.20C>T	NP_001077377.1:p.Ser7Phe
NM_018139.3:c.20C>T MANE Select	NP_060609.2:p.Ser7Phe