Canonical Allele Identifier: CA353697505

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87302579T>A (hg19) ; chr3:g.87253429T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253429T>A , CM000665.2:g.87253429T>A	GRCh38
NC_000003.11:g.87302579T>A , CM000665.1:g.87302579T>A	GRCh37
NC_000003.10:g.87385269T>A	NCBI36
NG_007885.1:g.31167T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.450T>A MANE Select	ENSP00000263780.4:p.Phe150Leu
ENST00000472024.3:c.498T>A	ENSP00000480032.2:p.Phe166Leu
ENST00000676705.1:c.498T>A	ENSP00000504098.1:p.Phe166Leu
ENST00000677929.1:n.4114T>A
ENST00000678859.1:n.4199T>A
ENST00000263780.8:c.450T>A	ENSP00000263780.4:p.Phe150Leu
ENST00000466696.1:n.381T>A
ENST00000471660.5:c.327T>A	ENSP00000419998.1:p.Phe109Leu
ENST00000472024.2:c.498T>A	ENSP00000480032.1:p.Phe166Leu
ENST00000494980.5:c.360T>A	ENSP00000418920.1:p.Phe120Leu
NM_001244644.1:c.327T>A	NP_001231573.1:p.Phe109Leu
NM_014043.3:c.450T>A	NP_054762.2:p.Phe150Leu
XM_011533576.1:c.498T>A	XP_011531878.1:p.Phe166Leu
XM_011533576.2:c.498T>A	XP_011531878.1:p.Phe166Leu
NM_014043.4:c.450T>A MANE Select	NP_054762.2:p.Phe150Leu
NM_001244644.2:c.327T>A	NP_001231573.1:p.Phe109Leu