Canonical Allele Identifier: CA36637654

Gene: CR2

Linked Data

• dbSNP Id: rs924823387
• gnomAD v3: 1-207454260-T-C
• gnomAD v4: 1-207454260-T-C
• MyVariant Identifiers: chr1:g.207627605T>C (hg19) ; chr1:g.207454260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207454260T>C , CM000663.2:g.207454260T>C	GRCh38
NC_000001.10:g.207627605T>C , CM000663.1:g.207627605T>C	GRCh37
NC_000001.9:g.205694228T>C	NCBI36
NG_013006.1:g.4961T>C , LRG_348:g.4961T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699640.1:c.-385+1165T>C	ENSP00000514493.1:n.-385+1165T>C
ENST00000367057.7:c.-159T>C	ENSP00000356024.3:n.-159T>C
ENST00000367058.7:c.-159T>C	ENSP00000356025.3:n.-159T>C
ENST00000367059.3:c.-159T>C	ENSP00000356026.3:n.-159T>C