Canonical Allele Identifier: CA353696931

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87294951A>G (hg19) ; chr3:g.87245801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245801A>G , CM000665.2:g.87245801A>G	GRCh38
NC_000003.11:g.87294951A>G , CM000665.1:g.87294951A>G	GRCh37
NC_000003.10:g.87377641A>G	NCBI36
NG_007885.1:g.23539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.214A>G MANE Select	ENSP00000263780.4:p.Lys72Glu
ENST00000472024.3:c.262A>G	ENSP00000480032.2:p.Lys88Glu
ENST00000676705.1:c.262A>G	ENSP00000504098.1:p.Lys88Glu
ENST00000676947.1:n.367A>G
ENST00000677929.1:n.452A>G
ENST00000678818.1:n.1063-614A>G
ENST00000678859.1:n.537A>G
ENST00000263780.8:c.214A>G	ENSP00000263780.4:p.Lys72Glu
ENST00000471660.5:c.91A>G	ENSP00000419998.1:p.Lys31Glu
ENST00000472024.2:c.262A>G	ENSP00000480032.1:p.Lys88Glu
ENST00000494980.5:c.214A>G	ENSP00000418920.1:p.Lys72Glu
NM_001244644.1:c.91A>G	NP_001231573.1:p.Lys31Glu
NM_014043.3:c.214A>G	NP_054762.2:p.Lys72Glu
XM_011533576.1:c.262A>G	XP_011531878.1:p.Lys88Glu
XM_011533576.2:c.262A>G	XP_011531878.1:p.Lys88Glu
NM_014043.4:c.214A>G MANE Select	NP_054762.2:p.Lys72Glu
NM_001244644.2:c.91A>G	NP_001231573.1:p.Lys31Glu