Canonical Allele Identifier: CA2501038

Gene: CHMP2B

Linked Data

• ClinVar Variation Id: 260314
• ClinVar RCV Id: RCV000249485 ; RCV000335262 ; RCV000514690
• dbSNP Id: rs78268395
• ExAC: 3:87302890 G / A
• gnomAD v2: 3-87302890-G-A
• gnomAD v3: 3-87253740-G-A
• gnomAD v4: 3-87253740-G-A
• MyVariant Identifiers: chr3:g.87302890G>A (hg19) ; chr3:g.87253740G>A (hg38)
• PubMed: PMID:20592581 ; PMID:20625756

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253740G>A , CM000665.2:g.87253740G>A	GRCh38
NC_000003.11:g.87302890G>A , CM000665.1:g.87302890G>A	GRCh37
NC_000003.10:g.87385580G>A	NCBI36
NG_007885.1:g.31478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.560G>A MANE Select	ENSP00000263780.4:p.Ser187Asn
ENST00000472024.3:c.608G>A	ENSP00000480032.2:p.Ser203Asn
ENST00000676705.1:c.608G>A	ENSP00000504098.1:p.Ser203Asn
ENST00000677929.1:n.4224G>A
ENST00000678859.1:n.4309G>A
ENST00000263780.8:c.560G>A	ENSP00000263780.4:p.Ser187Asn
ENST00000466696.1:n.491G>A
ENST00000471660.5:c.437G>A	ENSP00000419998.1:p.Ser146Asn
ENST00000494980.5:c.470G>A	ENSP00000418920.1:p.Ser157Asn
NM_001244644.1:c.437G>A	NP_001231573.1:p.Ser146Asn
NM_014043.3:c.560G>A	NP_054762.2:p.Ser187Asn
XM_011533576.1:c.608G>A	XP_011531878.1:p.Ser203Asn
XM_011533576.2:c.608G>A	XP_011531878.1:p.Ser203Asn
NM_014043.4:c.560G>A MANE Select	NP_054762.2:p.Ser187Asn
NM_001244644.2:c.437G>A	NP_001231573.1:p.Ser146Asn