Canonical Allele Identifier: CA2666610570

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87227336-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87227336G>T , CM000665.2:g.87227336G>T	GRCh38
NC_000003.11:g.87276486G>T , CM000665.1:g.87276486G>T	GRCh37
NC_000003.10:g.87359176G>T	NCBI36
NG_007885.1:g.5074G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.-187G>T MANE Select	ENSP00000263780.4:n.-187G>T
ENST00000472024.3:c.-270G>T	ENSP00000480032.2:n.-270G>T
ENST00000676705.1:c.-266G>T	ENSP00000504098.1:n.-266G>T
ENST00000677929.1:n.52G>T
ENST00000678859.1:n.10G>T
ENST00000263780.8:c.-187G>T	ENSP00000263780.4:n.-187G>T
ENST00000471660.5:c.-218G>T	ENSP00000419998.1:n.-218G>T
ENST00000472024.2:c.-270G>T	ENSP00000480032.1:n.-270G>T
ENST00000494980.5:c.-187G>T	ENSP00000418920.1:n.-187G>T
NM_001244644.1:c.-218G>T	NP_001231573.1:n.-218G>T
NM_014043.3:c.-187G>T	NP_054762.2:n.-187G>T
NM_014043.4:c.-187G>T MANE Select	NP_054762.2:n.-187G>T
NM_001244644.2:c.-218G>T	NP_001231573.1:n.-218G>T