Canonical Allele Identifier: CA353697497

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87302575T>G (hg19) ; chr3:g.87253425T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253425T>G , CM000665.2:g.87253425T>G	GRCh38
NC_000003.11:g.87302575T>G , CM000665.1:g.87302575T>G	GRCh37
NC_000003.10:g.87385265T>G	NCBI36
NG_007885.1:g.31163T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.446T>G MANE Select	ENSP00000263780.4:p.Ile149Ser
ENST00000472024.3:c.494T>G	ENSP00000480032.2:p.Ile165Ser
ENST00000676705.1:c.494T>G	ENSP00000504098.1:p.Ile165Ser
ENST00000677929.1:n.4110T>G
ENST00000678859.1:n.4195T>G
ENST00000263780.8:c.446T>G	ENSP00000263780.4:p.Ile149Ser
ENST00000466696.1:n.377T>G
ENST00000471660.5:c.323T>G	ENSP00000419998.1:p.Ile108Ser
ENST00000472024.2:c.494T>G	ENSP00000480032.1:p.Ile165Ser
ENST00000494980.5:c.356T>G	ENSP00000418920.1:p.Ile119Ser
NM_001244644.1:c.323T>G	NP_001231573.1:p.Ile108Ser
NM_014043.3:c.446T>G	NP_054762.2:p.Ile149Ser
XM_011533576.1:c.494T>G	XP_011531878.1:p.Ile165Ser
XM_011533576.2:c.494T>G	XP_011531878.1:p.Ile165Ser
NM_014043.4:c.446T>G MANE Select	NP_054762.2:p.Ile149Ser
NM_001244644.2:c.323T>G	NP_001231573.1:p.Ile108Ser