Canonical Allele Identifier: CA353697502

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87302578T>A (hg19) ; chr3:g.87253428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253428T>A , CM000665.2:g.87253428T>A	GRCh38
NC_000003.11:g.87302578T>A , CM000665.1:g.87302578T>A	GRCh37
NC_000003.10:g.87385268T>A	NCBI36
NG_007885.1:g.31166T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.449T>A MANE Select	ENSP00000263780.4:p.Phe150Tyr
ENST00000472024.3:c.497T>A	ENSP00000480032.2:p.Phe166Tyr
ENST00000676705.1:c.497T>A	ENSP00000504098.1:p.Phe166Tyr
ENST00000677929.1:n.4113T>A
ENST00000678859.1:n.4198T>A
ENST00000263780.8:c.449T>A	ENSP00000263780.4:p.Phe150Tyr
ENST00000466696.1:n.380T>A
ENST00000471660.5:c.326T>A	ENSP00000419998.1:p.Phe109Tyr
ENST00000472024.2:c.497T>A	ENSP00000480032.1:p.Phe166Tyr
ENST00000494980.5:c.359T>A	ENSP00000418920.1:p.Phe120Tyr
NM_001244644.1:c.326T>A	NP_001231573.1:p.Phe109Tyr
NM_014043.3:c.449T>A	NP_054762.2:p.Phe150Tyr
XM_011533576.1:c.497T>A	XP_011531878.1:p.Phe166Tyr
XM_011533576.2:c.497T>A	XP_011531878.1:p.Phe166Tyr
NM_014043.4:c.449T>A MANE Select	NP_054762.2:p.Phe150Tyr
NM_001244644.2:c.326T>A	NP_001231573.1:p.Phe109Tyr