Canonical Allele Identifier: CA2650261400

Gene: CR2

Linked Data

• gnomAD v4: 1-207454394-C-CCGCCGCGGGGGCTTCGGCCGTGGCATGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454404_207454432dup , CM000663.2:g.207454404_207454432dup	GRCh38
NC_000001.10:g.207627749_207627777dup , CM000663.1:g.207627749_207627777dup	GRCh37
NC_000001.9:g.205694372_205694400dup	NCBI36
NG_013006.1:g.5105_5133dup , LRG_348:g.5105_5133dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-457_-429dup	ENSP00000514480.1:n.-457_-429dup
ENST00000699640.1:c.-385+1309_-385+1337dup	ENSP00000514493.1:n.-385+1309_-385+1337dup
ENST00000367057.8:c.-15_14dup MANE Select	ENSP00000356024.3:p.Leu6AlafsTer35
ENST00000367057.7:c.-15_14dup	ENSP00000356024.3:p.Leu6AlafsTer35
ENST00000367058.7:c.-15_14dup	ENSP00000356025.3:p.Leu6AlafsTer35
ENST00000367059.3:c.-15_14dup	ENSP00000356026.3:p.Leu6AlafsTer35
NM_001006658.2:c.-15_14dup , LRG_348t1:c.-15_14dup	NP_001006659.1:p.Leu6AlafsTer35
NM_001877.4:c.-15_14dup	NP_001868.2:p.Leu6AlafsTer35
NM_001006658.3:c.-15_14dup MANE Select	NP_001006659.1:p.Leu6AlafsTer35
NM_001877.5:c.-15_14dup	NP_001868.2:p.Leu6AlafsTer35