Canonical Allele Identifier: CA2500998

Gene: CHMP2B

Linked Data

• dbSNP Id: rs199499269
• ExAC: 3:87302547 C / A
• gnomAD v2: 3-87302547-C-A
• gnomAD v3: 3-87253397-C-A
• gnomAD v4: 3-87253397-C-A
• MyVariant Identifiers: chr3:g.87302547C>A (hg19) ; chr3:g.87253397C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253397C>A , CM000665.2:g.87253397C>A	GRCh38
NC_000003.11:g.87302547C>A , CM000665.1:g.87302547C>A	GRCh37
NC_000003.10:g.87385237C>A	NCBI36
NG_007885.1:g.31135C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.425-7C>A MANE Select	ENSP00000263780.4:n.425-7C>A
ENST00000472024.3:c.473-7C>A	ENSP00000480032.2:n.473-7C>A
ENST00000676705.1:c.473-7C>A	ENSP00000504098.1:n.473-7C>A
ENST00000677929.1:n.4082C>A
ENST00000678859.1:n.4167C>A
ENST00000263780.8:c.425-7C>A	ENSP00000263780.4:n.425-7C>A
ENST00000466696.1:n.349C>A
ENST00000471660.5:c.302-7C>A	ENSP00000419998.1:n.302-7C>A
ENST00000472024.2:c.473-7C>A	ENSP00000480032.1:n.473-7C>A
ENST00000494980.5:c.335-7C>A	ENSP00000418920.1:n.335-7C>A
NM_001244644.1:c.302-7C>A	NP_001231573.1:n.302-7C>A
NM_014043.3:c.425-7C>A	NP_054762.2:n.425-7C>A
XM_011533576.1:c.473-7C>A	XP_011531878.1:n.473-7C>A
XM_011533576.2:c.473-7C>A	XP_011531878.1:n.473-7C>A
NM_014043.4:c.425-7C>A MANE Select	NP_054762.2:n.425-7C>A
NM_001244644.2:c.302-7C>A	NP_001231573.1:n.302-7C>A