Canonical Allele Identifier: CA10616735
Gene: CHMP2B HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.87227421C>T
GRCh37 chr3:g.87276571C>T
gnomAD v2:
3:87276571 C / T
gnomAD v3:
3:87227421 C / T
gnomAD v4:
chr3-87227421-C-T
Joint Max Group AF 0.01463211 (NFE)
Genomes Max Group AF 0.01506186 (NFE)
Exomes Max Group AF 0.01455096 (NFE)
ClinVar RCV:
RCV000286148
RCV001591003
ClinVar Variation:
346802
dbSNP:
36098294
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87227421C>T , CM000665.2:g.87227421C>T GRCh38
NC_000003.11:g.87276571C>T , CM000665.1:g.87276571C>T GRCh37
NC_000003.10:g.87359261C>T NCBI36
NG_007885.1:g.5159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263780.9:c.-102C>T MANE Select ENSP00000263780.4:n.-102C>T
ENST00000472024.3:c.-185C>T ENSP00000480032.2:n.-185C>T
ENST00000676705.1:c.-181C>T ENSP00000504098.1:n.-181C>T
ENST00000676947.1:n.52C>T
ENST00000677929.1:n.137C>T
ENST00000678859.1:n.95C>T
ENST00000263780.8:c.-102C>T ENSP00000263780.4:n.-102C>T
ENST00000471660.5:c.-133C>T ENSP00000419998.1:n.-133C>T
ENST00000472024.2:c.-185C>T ENSP00000480032.1:n.-185C>T
ENST00000494980.5:c.-102C>T ENSP00000418920.1:n.-102C>T
NM_001244644.1:c.-133C>T NP_001231573.1:n.-133C>T
NM_014043.3:c.-102C>T NP_054762.2:n.-102C>T
NM_014043.4:c.-102C>T MANE Select NP_054762.2:n.-102C>T
NM_001244644.2:c.-133C>T NP_001231573.1:n.-133C>T
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