Canonical Allele Identifier: CA2830974166

Gene: CHMP2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87227984C>T , CM000665.2:g.87227984C>T	GRCh38
NC_000003.11:g.87277134C>T , CM000665.1:g.87277134C>T	GRCh37
NC_000003.10:g.87359824C>T	NCBI36
NG_007885.1:g.5722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.34+428C>T MANE Select	ENSP00000263780.4:n.34+428C>T
ENST00000472024.3:c.-50+428C>T	ENSP00000480032.2:n.-50+428C>T
ENST00000676705.1:c.-46+428C>T	ENSP00000504098.1:n.-46+428C>T
ENST00000676947.1:n.187+428C>T
ENST00000677929.1:n.272+428C>T
ENST00000678859.1:n.230+428C>T
ENST00000263780.8:c.34+428C>T	ENSP00000263780.4:n.34+428C>T
ENST00000471660.5:c.3+428C>T	ENSP00000419998.1:n.3+428C>T
ENST00000472024.2:c.-50+428C>T	ENSP00000480032.1:n.-50+428C>T
ENST00000494980.5:c.34+428C>T	ENSP00000418920.1:n.34+428C>T
NM_001244644.1:c.3+428C>T	NP_001231573.1:n.3+428C>T
NM_014043.3:c.34+428C>T	NP_054762.2:n.34+428C>T
NM_014043.4:c.34+428C>T MANE Select	NP_054762.2:n.34+428C>T
NM_001244644.2:c.3+428C>T	NP_001231573.1:n.3+428C>T