Canonical Allele Identifier: CA224974
Gene: CHMP2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1653
ClinVar RCV Id: RCV000001720 RCV000084275
dbSNP Id: rs63750653
gnomAD v4: 3-87253421-G-T
MyVariant Identifiers: chr3:g.87302571G>T (hg19) chr3:g.87253421G>T (hg38)
PubMed: PMID:16041373 PMID:20301378
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87253421G>T , CM000665.2:g.87253421G>T GRCh38
NC_000003.11:g.87302571G>T , CM000665.1:g.87302571G>T GRCh37
NC_000003.10:g.87385261G>T NCBI36
NG_007885.1:g.31159G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263780.9:c.442G>T MANE Select ENSP00000263780.4:p.Asp148Tyr
ENST00000472024.3:c.490G>T ENSP00000480032.2:p.Asp164Tyr
ENST00000676705.1:c.490G>T ENSP00000504098.1:p.Asp164Tyr
ENST00000677929.1:n.4106G>T
ENST00000678859.1:n.4191G>T
ENST00000263780.8:c.442G>T ENSP00000263780.4:p.Asp148Tyr
ENST00000466696.1:n.373G>T
ENST00000471660.5:c.319G>T ENSP00000419998.1:p.Asp107Tyr
ENST00000472024.2:c.490G>T ENSP00000480032.1:p.Asp164Tyr
ENST00000494980.5:c.352G>T ENSP00000418920.1:p.Asp118Tyr
NM_001244644.1:c.319G>T NP_001231573.1:p.Asp107Tyr
NM_014043.3:c.442G>T NP_054762.2:p.Asp148Tyr
XM_011533576.1:c.490G>T XP_011531878.1:p.Asp164Tyr
XM_011533576.2:c.490G>T XP_011531878.1:p.Asp164Tyr
NM_014043.4:c.442G>T MANE Select NP_054762.2:p.Asp148Tyr
NM_001244644.2:c.319G>T NP_001231573.1:p.Asp107Tyr
Search 100 bp 5'
Search 100 bp 3'