Canonical Allele Identifier: CA10619701

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 346825
• ClinVar RCV Id: RCV000336612
• dbSNP Id: rs11426
• gnomAD v2: 3-87304560-C-T
• gnomAD v3: 3-87255410-C-T
• gnomAD v4: 3-87255410-C-T
• MyVariant Identifiers: chr3:g.87304560C>T (hg19) ; chr3:g.87255410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87255410C>T , CM000665.2:g.87255410C>T	GRCh38
NC_000003.11:g.87304560C>T , CM000665.1:g.87304560C>T	GRCh37
NC_000003.10:g.87387250C>T	NCBI36
NG_007885.1:g.33148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.*1588C>T MANE Select	ENSP00000263780.4:n.*1588C>T
ENST00000472024.3:c.*1588C>T	ENSP00000480032.2:n.*1588C>T
ENST00000676705.1:c.*1588C>T	ENSP00000504098.1:n.*1588C>T
ENST00000677929.1:n.5894C>T
ENST00000678859.1:n.5979C>T
ENST00000263780.8:c.*1588C>T	ENSP00000263780.4:n.*1588C>T
ENST00000471660.5:c.*1588C>T	ENSP00000419998.1:n.*1588C>T
NM_001244644.1:c.*1588C>T	NP_001231573.1:n.*1588C>T
NM_014043.3:c.*1588C>T	NP_054762.2:n.*1588C>T
XM_011533576.1:c.*1588C>T	XP_011531878.1:n.*1588C>T
XM_011533576.2:c.*1588C>T	XP_011531878.1:n.*1588C>T
NM_014043.4:c.*1588C>T MANE Select	NP_054762.2:n.*1588C>T
NM_001244644.2:c.*1588C>T	NP_001231573.1:n.*1588C>T