Canonical Allele Identifier: CA2500996

Gene: CHMP2B

Linked Data

• dbSNP Id: rs749814652
• ExAC: 3:87302542 C / T
• gnomAD v2: 3-87302542-C-T
• gnomAD v4: 3-87253392-C-T
• MyVariant Identifiers: chr3:g.87302542C>T (hg19) ; chr3:g.87253392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253392C>T , CM000665.2:g.87253392C>T	GRCh38
NC_000003.11:g.87302542C>T , CM000665.1:g.87302542C>T	GRCh37
NC_000003.10:g.87385232C>T	NCBI36
NG_007885.1:g.31130C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.425-12C>T MANE Select	ENSP00000263780.4:n.425-12C>T
ENST00000472024.3:c.473-12C>T	ENSP00000480032.2:n.473-12C>T
ENST00000676705.1:c.473-12C>T	ENSP00000504098.1:n.473-12C>T
ENST00000677929.1:n.4077C>T
ENST00000678859.1:n.4162C>T
ENST00000263780.8:c.425-12C>T	ENSP00000263780.4:n.425-12C>T
ENST00000466696.1:n.344C>T
ENST00000471660.5:c.302-12C>T	ENSP00000419998.1:n.302-12C>T
ENST00000472024.2:c.473-12C>T	ENSP00000480032.1:n.473-12C>T
ENST00000494980.5:c.335-12C>T	ENSP00000418920.1:n.335-12C>T
NM_001244644.1:c.302-12C>T	NP_001231573.1:n.302-12C>T
NM_014043.3:c.425-12C>T	NP_054762.2:n.425-12C>T
XM_011533576.1:c.473-12C>T	XP_011531878.1:n.473-12C>T
XM_011533576.2:c.473-12C>T	XP_011531878.1:n.473-12C>T
NM_014043.4:c.425-12C>T MANE Select	NP_054762.2:n.425-12C>T
NM_001244644.2:c.302-12C>T	NP_001231573.1:n.302-12C>T