Canonical Allele Identifier: CA911571104

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1197838311
• gnomAD v3: 3-87253281-AGTTT-A
• gnomAD v4: 3-87253281-AGTTT-A
• MyVariant Identifiers: chr3:g.87302432_87302435del (hg19) ; chr3:g.87253282_87253285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253285_87253288del , CM000665.2:g.87253285_87253288del	GRCh38
NC_000003.11:g.87302435_87302438del , CM000665.1:g.87302435_87302438del	GRCh37
NC_000003.10:g.87385125_87385128del	NCBI36
NG_007885.1:g.31023_31026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-119_425-116del MANE Select	ENSP00000263780.4:n.425-119_425-116del
ENST00000472024.3:c.473-119_473-116del	ENSP00000480032.2:n.473-119_473-116del
ENST00000676705.1:c.473-119_473-116del	ENSP00000504098.1:n.473-119_473-116del
ENST00000677929.1:n.3970_3973del
ENST00000678859.1:n.4055_4058del
ENST00000263780.8:c.425-119_425-116del	ENSP00000263780.4:n.425-119_425-116del
ENST00000466696.1:n.237_240del
ENST00000471660.5:c.302-119_302-116del	ENSP00000419998.1:n.302-119_302-116del
ENST00000472024.2:c.473-119_473-116del	ENSP00000480032.1:n.473-119_473-116del
ENST00000494980.5:c.335-119_335-116del	ENSP00000418920.1:n.335-119_335-116del
NM_001244644.1:c.302-119_302-116del	NP_001231573.1:n.302-119_302-116del
NM_014043.3:c.425-119_425-116del	NP_054762.2:n.425-119_425-116del
XM_011533576.1:c.473-119_473-116del	XP_011531878.1:n.473-119_473-116del
XM_011533576.2:c.473-119_473-116del	XP_011531878.1:n.473-119_473-116del
NM_014043.4:c.425-119_425-116del MANE Select	NP_054762.2:n.425-119_425-116del
NM_001244644.2:c.302-119_302-116del	NP_001231573.1:n.302-119_302-116del