Canonical Allele Identifier: CA7172784

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 411167
• ClinVar RCV Id: RCV000468312 ; RCV000765166
• dbSNP Id: rs187863107
• ExAC: 14:50094768 G / A
• gnomAD v2: 14-50094768-G-A
• gnomAD v3: 14-49628050-G-A
• gnomAD v4: 14-49628050-G-A
• MyVariant Identifiers: chr14:g.50094768G>A (hg19) ; chr14:g.49628050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49628050G>A , CM000676.2:g.49628050G>A	GRCh38
NC_000014.8:g.50094768G>A , CM000676.1:g.50094768G>A	GRCh37
NC_000014.7:g.49164518G>A	NCBI36
NG_013070.1:g.12181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.1969C>T MANE Select	ENSP00000298292.8:p.Leu657Phe
ENST00000298292.12:c.1969C>T	ENSP00000298292.8:p.Leu657Phe
ENST00000406043.3:c.1864-2002C>T	ENSP00000384862.3:n.1864-2002C>T
NM_001083908.1:c.1864-2002C>T	NP_001077377.1:n.1864-2002C>T
NM_018139.2:c.1969C>T	NP_060609.2:p.Leu657Phe
NM_001083908.2:c.1864-2002C>T	NP_001077377.1:n.1864-2002C>T
NM_001378453.1:c.-204-2002C>T	NP_001365382.1:n.-204-2002C>T
NM_018139.3:c.1969C>T MANE Select	NP_060609.2:p.Leu657Phe