Canonical Allele Identifier: CA2500993

Gene: CHMP2B

Linked Data

• dbSNP Id: rs745382317
• ExAC: 3:87302523 A / G
• gnomAD v2: 3-87302523-A-G
• MyVariant Identifiers: chr3:g.87302523A>G (hg19) ; chr3:g.87253373A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253373A>G , CM000665.2:g.87253373A>G	GRCh38
NC_000003.11:g.87302523A>G , CM000665.1:g.87302523A>G	GRCh37
NC_000003.10:g.87385213A>G	NCBI36
NG_007885.1:g.31111A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.425-31A>G MANE Select	ENSP00000263780.4:n.425-31A>G
ENST00000472024.3:c.473-31A>G	ENSP00000480032.2:n.473-31A>G
ENST00000676705.1:c.473-31A>G	ENSP00000504098.1:n.473-31A>G
ENST00000677929.1:n.4058A>G
ENST00000678859.1:n.4143A>G
ENST00000263780.8:c.425-31A>G	ENSP00000263780.4:n.425-31A>G
ENST00000466696.1:n.325A>G
ENST00000471660.5:c.302-31A>G	ENSP00000419998.1:n.302-31A>G
ENST00000472024.2:c.473-31A>G	ENSP00000480032.1:n.473-31A>G
ENST00000494980.5:c.335-31A>G	ENSP00000418920.1:n.335-31A>G
NM_001244644.1:c.302-31A>G	NP_001231573.1:n.302-31A>G
NM_014043.3:c.425-31A>G	NP_054762.2:n.425-31A>G
XM_011533576.1:c.473-31A>G	XP_011531878.1:n.473-31A>G
XM_011533576.2:c.473-31A>G	XP_011531878.1:n.473-31A>G
NM_014043.4:c.425-31A>G MANE Select	NP_054762.2:n.425-31A>G
NM_001244644.2:c.302-31A>G	NP_001231573.1:n.302-31A>G