Canonical Allele Identifier: CA224980
Gene: CHMP2B HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.87253798A>C
GRCh37 chr3:g.87302948A>C
Revel Score:
ENST00000471660 0.708
ENST00000263780 (MANE Select) 0.708
ENST00000494980 0.708
gnomAD v2:
3:87302948 A / C
gnomAD v4:
chr3-87253798-A-C
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.0000031 (NFE)
ClinVar RCV:
RCV000020696
RCV000084279
ClinVar Variation:
1654
dbSNP:
63751126
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87253798A>C , CM000665.2:g.87253798A>C GRCh38
NC_000003.11:g.87302948A>C , CM000665.1:g.87302948A>C GRCh37
NC_000003.10:g.87385638A>C NCBI36
NG_007885.1:g.31536A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263780.9:c.618A>C MANE Select ENSP00000263780.4:p.Gln206His
ENST00000472024.3:c.666A>C ENSP00000480032.2:p.Gln222His
ENST00000676705.1:c.666A>C ENSP00000504098.1:p.Gln222His
ENST00000677929.1:n.4282A>C
ENST00000678859.1:n.4367A>C
ENST00000263780.8:c.618A>C ENSP00000263780.4:p.Gln206His
ENST00000466696.1:n.549A>C
ENST00000471660.5:c.495A>C ENSP00000419998.1:p.Gln165His
ENST00000494980.5:c.528A>C ENSP00000418920.1:p.Gln176His
NM_001244644.1:c.495A>C NP_001231573.1:p.Gln165His
NM_014043.3:c.618A>C NP_054762.2:p.Gln206His
XM_011533576.1:c.666A>C XP_011531878.1:p.Gln222His
XM_011533576.2:c.666A>C XP_011531878.1:p.Gln222His
NM_014043.4:c.618A>C MANE Select NP_054762.2:p.Gln206His
NM_001244644.2:c.495A>C NP_001231573.1:p.Gln165His
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