Canonical Allele Identifier: CA2650261383

Gene: CR2

Linked Data

• gnomAD v4: 1-207454378-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454378G>T , CM000663.2:g.207454378G>T	GRCh38
NC_000001.10:g.207627723G>T , CM000663.1:g.207627723G>T	GRCh37
NC_000001.9:g.205694346G>T	NCBI36
NG_013006.1:g.5079G>T , LRG_348:g.5079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-483G>T	ENSP00000514480.1:n.-483G>T
ENST00000699640.1:c.-385+1283G>T	ENSP00000514493.1:n.-385+1283G>T
ENST00000367057.8:c.-41G>T MANE Select	ENSP00000356024.3:n.-41G>T
ENST00000367057.7:c.-41G>T	ENSP00000356024.3:n.-41G>T
ENST00000367058.7:c.-41G>T	ENSP00000356025.3:n.-41G>T
ENST00000367059.3:c.-41G>T	ENSP00000356026.3:n.-41G>T
NM_001006658.2:c.-41G>T , LRG_348t1:c.-41G>T	NP_001006659.1:n.-41G>T
NM_001877.4:c.-41G>T	NP_001868.2:n.-41G>T
NM_001006658.3:c.-41G>T MANE Select	NP_001006659.1:n.-41G>T
NM_001877.5:c.-41G>T	NP_001868.2:n.-41G>T