Canonical Allele Identifier: CA79035741

Gene: CHMP2B

Linked Data

• dbSNP Id: rs935032035
• gnomAD v4: 3-87253316-A-G
• MyVariant Identifiers: chr3:g.87302466A>G (hg19) ; chr3:g.87253316A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253316A>G , CM000665.2:g.87253316A>G	GRCh38
NC_000003.11:g.87302466A>G , CM000665.1:g.87302466A>G	GRCh37
NC_000003.10:g.87385156A>G	NCBI36
NG_007885.1:g.31054A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-88A>G MANE Select	ENSP00000263780.4:n.425-88A>G
ENST00000472024.3:c.473-88A>G	ENSP00000480032.2:n.473-88A>G
ENST00000676705.1:c.473-88A>G	ENSP00000504098.1:n.473-88A>G
ENST00000677929.1:n.4001A>G
ENST00000678859.1:n.4086A>G
ENST00000263780.8:c.425-88A>G	ENSP00000263780.4:n.425-88A>G
ENST00000466696.1:n.268A>G
ENST00000471660.5:c.302-88A>G	ENSP00000419998.1:n.302-88A>G
ENST00000472024.2:c.473-88A>G	ENSP00000480032.1:n.473-88A>G
ENST00000494980.5:c.335-88A>G	ENSP00000418920.1:n.335-88A>G
NM_001244644.1:c.302-88A>G	NP_001231573.1:n.302-88A>G
NM_014043.3:c.425-88A>G	NP_054762.2:n.425-88A>G
XM_011533576.1:c.473-88A>G	XP_011531878.1:n.473-88A>G
XM_011533576.2:c.473-88A>G	XP_011531878.1:n.473-88A>G
NM_014043.4:c.425-88A>G MANE Select	NP_054762.2:n.425-88A>G
NM_001244644.2:c.302-88A>G	NP_001231573.1:n.302-88A>G