Canonical Allele Identifier: CA1368807
Gene: CR2 HGNC NCBI
COSMIC:
COSM3746749 (not active)
MyVariant.info:
GRCh38 chr1:g.207472977G>A
GRCh37 chr1:g.207646322G>A
gnomAD v2:
1:207646322 G / A
gnomAD v3:
1:207472977 G / A
gnomAD v4:
chr1-207472977-G-A
Joint Max Group AF 0.69095656 (AFR)
Genomes Max Group AF 0.68222753 (AFR)
Exomes Max Group AF 0.69715395 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207472977G>A , CM000663.2:g.207472977G>A GRCh38
NC_000001.10:g.207646322G>A , CM000663.1:g.207646322G>A GRCh37
NC_000001.9:g.205712945G>A NCBI36
NG_013006.1:g.23678G>A , LRG_348:g.23678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699620.1:c.1407G>A ENSP00000514480.1:p.Leu469=
ENST00000699621.1:c.1396G>A
ENST00000367057.8:c.1776G>A MANE Select ENSP00000356024.3:p.Leu592=
ENST00000367057.7:c.1776G>A ENSP00000356024.3:p.Leu592=
ENST00000367058.7:c.1776G>A ENSP00000356025.3:p.Leu592=
ENST00000367059.3:c.1776G>A ENSP00000356026.3:p.Leu592=
NM_001006658.2:c.1776G>A , LRG_348t1:c.1776G>A NP_001006659.1:p.Leu592=
NM_001877.4:c.1776G>A NP_001868.2:p.Leu592=
XM_011509206.1:c.1407G>A XP_011507508.1:p.Leu469=
XM_011509206.3:c.1407G>A XP_011507508.1:p.Leu469=
NM_001006658.3:c.1776G>A MANE Select NP_001006659.1:p.Leu592=
NM_001877.5:c.1776G>A NP_001868.2:p.Leu592=
Search 100 bp 5'
Search 100 bp 3'