Canonical Allele Identifier: CA730645866
Gene: CR2 HGNC NCBI

Linked Data

dbSNP Id: rs1187978066
gnomAD v4: 1-207454292-C-G
MyVariant Identifiers: chr1:g.207627637C>G (hg19) chr1:g.207454292C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207454292C>G , CM000663.2:g.207454292C>G GRCh38
NC_000001.10:g.207627637C>G , CM000663.1:g.207627637C>G GRCh37
NC_000001.9:g.205694260C>G NCBI36
NG_013006.1:g.4993C>G , LRG_348:g.4993C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699640.1:c.-385+1197C>G ENSP00000514493.1:n.-385+1197C>G
ENST00000367057.7:c.-127C>G ENSP00000356024.3:n.-127C>G
ENST00000367058.7:c.-127C>G ENSP00000356025.3:n.-127C>G
ENST00000367059.3:c.-127C>G ENSP00000356026.3:n.-127C>G
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