Canonical Allele Identifier: CA36637890

Gene: CR2

Linked Data

• dbSNP Id: rs372176787
• gnomAD v4: 1-207454405-G-T
• MyVariant Identifiers: chr1:g.207627750G>T (hg19) ; chr1:g.207454405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454405G>T , CM000663.2:g.207454405G>T	GRCh38
NC_000001.10:g.207627750G>T , CM000663.1:g.207627750G>T	GRCh37
NC_000001.9:g.205694373G>T	NCBI36
NG_013006.1:g.5106G>T , LRG_348:g.5106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699620.1:c.-456G>T	ENSP00000514480.1:n.-456G>T
ENST00000699640.1:c.-385+1310G>T	ENSP00000514493.1:n.-385+1310G>T
ENST00000367057.8:c.-14G>T MANE Select	ENSP00000356024.3:n.-14G>T
ENST00000367057.7:c.-14G>T	ENSP00000356024.3:n.-14G>T
ENST00000367058.7:c.-14G>T	ENSP00000356025.3:n.-14G>T
ENST00000367059.3:c.-14G>T	ENSP00000356026.3:n.-14G>T
NM_001006658.2:c.-14G>T , LRG_348t1:c.-14G>T	NP_001006659.1:n.-14G>T
NM_001877.4:c.-14G>T	NP_001868.2:n.-14G>T
NM_001006658.3:c.-14G>T MANE Select	NP_001006659.1:n.-14G>T
NM_001877.5:c.-14G>T	NP_001868.2:n.-14G>T