Canonical Allele Identifier: CA10750099
Gene: CR2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.207454348T>C
GRCh37 chr1:g.207627693T>C
gnomAD v2:
1:207627693 T / C
gnomAD v3:
1:207454348 T / C
gnomAD v4:
chr1-207454348-T-C
Joint Max Group AF 0.2406294 (MID)
Genomes Max Group AF 0.19900394 (NFE)
Exomes Max Group AF 0.24041257 (MID)
ClinVar RCV:
RCV001518356
RCV001712532
ClinVar Variation:
478828
dbSNP:
3813946
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207454348T>C , CM000663.2:g.207454348T>C GRCh38
NC_000001.10:g.207627693T>C , CM000663.1:g.207627693T>C GRCh37
NC_000001.9:g.205694316T>C NCBI36
NG_013006.1:g.5049T>C , LRG_348:g.5049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699640.1:c.-385+1253T>C ENSP00000514493.1:n.-385+1253T>C
ENST00000367057.8:c.-71T>C MANE Select ENSP00000356024.3:n.-71T>C
ENST00000367057.7:c.-71T>C ENSP00000356024.3:n.-71T>C
ENST00000367058.7:c.-71T>C ENSP00000356025.3:n.-71T>C
ENST00000367059.3:c.-71T>C ENSP00000356026.3:n.-71T>C
NM_001006658.2:c.-71T>C , LRG_348t1:c.-71T>C NP_001006659.1:n.-71T>C
NM_001877.4:c.-71T>C NP_001868.2:n.-71T>C
NM_001006658.3:c.-71T>C MANE Select NP_001006659.1:n.-71T>C
NM_001877.5:c.-71T>C NP_001868.2:n.-71T>C
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