Canonical Allele Identifier: CA2483404583

Gene: CR2

Linked Data

• dbSNP Id: rs1657772216
• gnomAD v4: 1-207454354-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454354T>C , CM000663.2:g.207454354T>C	GRCh38
NC_000001.10:g.207627699T>C , CM000663.1:g.207627699T>C	GRCh37
NC_000001.9:g.205694322T>C	NCBI36
NG_013006.1:g.5055T>C , LRG_348:g.5055T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699620.1:c.-507T>C	ENSP00000514480.1:n.-507T>C
ENST00000699640.1:c.-385+1259T>C	ENSP00000514493.1:n.-385+1259T>C
ENST00000367057.8:c.-65T>C MANE Select	ENSP00000356024.3:n.-65T>C
ENST00000367057.7:c.-65T>C	ENSP00000356024.3:n.-65T>C
ENST00000367058.7:c.-65T>C	ENSP00000356025.3:n.-65T>C
ENST00000367059.3:c.-65T>C	ENSP00000356026.3:n.-65T>C
NM_001006658.2:c.-65T>C , LRG_348t1:c.-65T>C	NP_001006659.1:n.-65T>C
NM_001877.4:c.-65T>C	NP_001868.2:n.-65T>C
NM_001006658.3:c.-65T>C MANE Select	NP_001006659.1:n.-65T>C
NM_001877.5:c.-65T>C	NP_001868.2:n.-65T>C