Canonical Allele Identifier: CA1011643259

Gene: CR2

Linked Data

• dbSNP Id: rs1657774820
• gnomAD v3: 1-207454394-CCGCCGCGGGGGCTTCGGCCGTGGCATGGG-C
• gnomAD v4: 1-207454394-CCGCCGCGGGGGCTTCGGCCGTGGCATGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454404_207454432del , CM000663.2:g.207454404_207454432del	GRCh38
NC_000001.10:g.207627749_207627777del , CM000663.1:g.207627749_207627777del	GRCh37
NC_000001.9:g.205694372_205694400del	NCBI36
NG_013006.1:g.5105_5133del , LRG_348:g.5105_5133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-457_-429del	ENSP00000514480.1:n.-457_-429del
ENST00000699640.1:c.-385+1309_-385+1337del	ENSP00000514493.1:n.-385+1309_-385+1337del
ENST00000367057.8:c.-15_14del
ENST00000367057.7:c.-15_14del
ENST00000367058.7:c.-15_14del
ENST00000367059.3:c.-15_14del
NM_001006658.2:c.-15_14del , LRG_348t1:c.-15_14del
NM_001877.4:c.-15_14del
NM_001006658.3:c.-15_14del
NM_001877.5:c.-15_14del