Canonical Allele Identifier: CA67938401

Gene: ASB1

Linked Data

• dbSNP Id: rs944897559
• gnomAD v3: 2-238440639-A-C
• gnomAD v4: 2-238440639-A-C
• MyVariant Identifiers: chr2:g.239349280A>C (hg19) ; chr2:g.238440639A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238440639A>C , CM000664.2:g.238440639A>C	GRCh38
NC_000002.11:g.239349280A>C , CM000664.1:g.239349280A>C	GRCh37
NC_000002.10:g.239014019A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264607.9:c.495-3703A>C MANE Select	ENSP00000264607.4:n.495-3703A>C
ENST00000264607.8:c.495-3703A>C	ENSP00000264607.4:n.495-3703A>C
ENST00000409297.1:c.192-3703A>C	ENSP00000387025.1:n.192-3703A>C
ENST00000438264.5:c.*167-3703A>C	ENSP00000411773.1:n.*167-3703A>C
ENST00000463352.5:n.536-3703A>C
ENST00000468122.1:n.94-3703A>C
ENST00000491653.1:n.686-3703A>C
NM_001040445.1:c.495-3703A>C	NP_001035535.1:n.495-3703A>C
XM_005246080.1:c.192-3703A>C	XP_005246137.1:n.192-3703A>C
XR_241236.1:n.825-3703A>C
XR_241237.1:n.825-3703A>C
NM_001040445.2:c.495-3703A>C	NP_001035535.1:n.495-3703A>C
NM_001330196.1:c.192-3703A>C	NP_001317125.1:n.192-3703A>C
NM_001040445.3:c.495-3703A>C MANE Select	NP_001035535.1:n.495-3703A>C
NM_001330196.2:c.192-3703A>C	NP_001317125.1:n.192-3703A>C