Canonical Allele Identifier: CA1381557857

Gene: CHMP2B

Linked Data

• dbSNP Id: rs1706346832
• gnomAD v4: 3-87253182-C-CTATAAGATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253184_87253193dup , CM000665.2:g.87253184_87253193dup	GRCh38
NC_000003.11:g.87302334_87302343dup , CM000665.1:g.87302334_87302343dup	GRCh37
NC_000003.10:g.87385024_87385033dup	NCBI36
NG_007885.1:g.30922_30931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-220_425-211dup MANE Select	ENSP00000263780.4:n.425-220_425-211dup
ENST00000472024.3:c.473-220_473-211dup	ENSP00000480032.2:n.473-220_473-211dup
ENST00000676705.1:c.473-220_473-211dup	ENSP00000504098.1:n.473-220_473-211dup
ENST00000677929.1:n.3869_3878dup
ENST00000678859.1:n.3954_3963dup
ENST00000263780.8:c.425-220_425-211dup	ENSP00000263780.4:n.425-220_425-211dup
ENST00000466696.1:n.136_145dup
ENST00000471660.5:c.302-220_302-211dup	ENSP00000419998.1:n.302-220_302-211dup
ENST00000472024.2:c.473-220_473-211dup	ENSP00000480032.1:n.473-220_473-211dup
ENST00000494980.5:c.335-220_335-211dup	ENSP00000418920.1:n.335-220_335-211dup
NM_001244644.1:c.302-220_302-211dup	NP_001231573.1:n.302-220_302-211dup
NM_014043.3:c.425-220_425-211dup	NP_054762.2:n.425-220_425-211dup
XM_011533576.1:c.473-220_473-211dup	XP_011531878.1:n.473-220_473-211dup
XM_011533576.2:c.473-220_473-211dup	XP_011531878.1:n.473-220_473-211dup
NM_014043.4:c.425-220_425-211dup MANE Select	NP_054762.2:n.425-220_425-211dup
NM_001244644.2:c.302-220_302-211dup	NP_001231573.1:n.302-220_302-211dup