Allele Registry

Canonical Allele Identifier: CA11966988

Gene: DAB2 HGNC NCBI
C9 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN18897321 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.39397030T>A

GRCh37 chr5:g.39397132T>A

Linked Data - Sequence & Population

gnomAD v2:

5:39397132 T / A

gnomAD v3:

5:39397030 T / A

gnomAD v4:

chr5-39397030-T-A

Joint Max Group AF 0.43363474 (NFE)

Genomes Max Group AF 0.43363474 (NFE)

Linked Data - NCBI & NCI

dbSNP:

11959928

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.39397030T>A , CM000667.2:g.39397030T>A	GRCh38
NC_000005.9:g.39397132T>A , CM000667.1:g.39397132T>A	GRCh37
NC_000005.8:g.39432889T>A	NCBI36
NG_030312.1:g.33204A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320816.11:c.-101-2609A>T (DAB2) MANE Select	ENSP00000313391.6:n.-101-2609A>T
ENST00000320816.10:c.-101-2609A>T (DAB2)	ENSP00000313391.6:n.-101-2609A>T
ENST00000339788.10:c.-101-2609A>T (DAB2)	ENSP00000345508.6:n.-101-2609A>T
ENST00000483232.6:n.66-8178A>T (C9)
ENST00000503513.5:c.-101-2609A>T (DAB2)	ENSP00000425088.1:n.-101-2609A>T
ENST00000507539.5:c.-101-2609A>T (DAB2)	ENSP00000421526.1:n.-101-2609A>T
ENST00000511792.5:c.-101-2609A>T (DAB2)	ENSP00000427541.1:n.-101-2609A>T
ENST00000513052.1:n.458-2609A>T (DAB2)
ENST00000515269.5:n.233-2609A>T (DAB2)
ENST00000515700.5:c.-101-2609A>T (DAB2)	ENSP00000421086.1:n.-101-2609A>T
ENST00000545653.5:c.-101-2609A>T (DAB2)	ENSP00000439919.1:n.-101-2609A>T
NM_001244871.1:c.-101-2609A>T (DAB2)	NP_001231800.1:n.-101-2609A>T
NM_001343.3:c.-101-2609A>T (DAB2)	NP_001334.2:n.-101-2609A>T
NM_001343.4:c.-101-2609A>T (DAB2) MANE Select	NP_001334.2:n.-101-2609A>T
NM_001244871.2:c.-101-2609A>T (DAB2)	NP_001231800.1:n.-101-2609A>T

Search 100 bp 5'

Search 100 bp 3'