Canonical Allele Identifier: CA1381557930

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1706348154
• gnomAD v4: 3-87253279-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253280_87253281del , CM000665.2:g.87253280_87253281del	GRCh38
NC_000003.11:g.87302430_87302431del , CM000665.1:g.87302430_87302431del	GRCh37
NC_000003.10:g.87385120_87385121del	NCBI36
NG_007885.1:g.31018_31019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-124_425-123del MANE Select	ENSP00000263780.4:n.425-124_425-123del
ENST00000472024.3:c.473-124_473-123del	ENSP00000480032.2:n.473-124_473-123del
ENST00000676705.1:c.473-124_473-123del	ENSP00000504098.1:n.473-124_473-123del
ENST00000677929.1:n.3965_3966del
ENST00000678859.1:n.4050_4051del
ENST00000263780.8:c.425-124_425-123del	ENSP00000263780.4:n.425-124_425-123del
ENST00000466696.1:n.232_233del
ENST00000471660.5:c.302-124_302-123del	ENSP00000419998.1:n.302-124_302-123del
ENST00000472024.2:c.473-124_473-123del	ENSP00000480032.1:n.473-124_473-123del
ENST00000494980.5:c.335-124_335-123del	ENSP00000418920.1:n.335-124_335-123del
NM_001244644.1:c.302-124_302-123del	NP_001231573.1:n.302-124_302-123del
NM_014043.3:c.425-124_425-123del	NP_054762.2:n.425-124_425-123del
XM_011533576.1:c.473-124_473-123del	XP_011531878.1:n.473-124_473-123del
XM_011533576.2:c.473-124_473-123del	XP_011531878.1:n.473-124_473-123del
NM_014043.4:c.425-124_425-123del MANE Select	NP_054762.2:n.425-124_425-123del
NM_001244644.2:c.302-124_302-123del	NP_001231573.1:n.302-124_302-123del