Canonical Allele Identifier: CA2666628486

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87253149-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253149A>T , CM000665.2:g.87253149A>T	GRCh38
NC_000003.11:g.87302299A>T , CM000665.1:g.87302299A>T	GRCh37
NC_000003.10:g.87384989A>T	NCBI36
NG_007885.1:g.30887A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-255A>T MANE Select	ENSP00000263780.4:n.425-255A>T
ENST00000472024.3:c.473-255A>T	ENSP00000480032.2:n.473-255A>T
ENST00000676705.1:c.473-255A>T	ENSP00000504098.1:n.473-255A>T
ENST00000677929.1:n.3834A>T
ENST00000678859.1:n.3919A>T
ENST00000263780.8:c.425-255A>T	ENSP00000263780.4:n.425-255A>T
ENST00000466696.1:n.101A>T
ENST00000471660.5:c.302-255A>T	ENSP00000419998.1:n.302-255A>T
ENST00000472024.2:c.473-255A>T	ENSP00000480032.1:n.473-255A>T
ENST00000494980.5:c.335-255A>T	ENSP00000418920.1:n.335-255A>T
NM_001244644.1:c.302-255A>T	NP_001231573.1:n.302-255A>T
NM_014043.3:c.425-255A>T	NP_054762.2:n.425-255A>T
XM_011533576.1:c.473-255A>T	XP_011531878.1:n.473-255A>T
XM_011533576.2:c.473-255A>T	XP_011531878.1:n.473-255A>T
NM_014043.4:c.425-255A>T MANE Select	NP_054762.2:n.425-255A>T
NM_001244644.2:c.302-255A>T	NP_001231573.1:n.302-255A>T