Canonical Allele Identifier: CA434576672

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87302579T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.450T>C MANE Select	ENSP00000263780.4:p.Phe150=
ENST00000472024.3:c.498T>C	ENSP00000480032.2:p.Phe166=
ENST00000676705.1:c.498T>C	ENSP00000504098.1:p.Phe166=
ENST00000677929.1:n.4114T>C
ENST00000678859.1:n.4199T>C
ENST00000263780.8:c.450T>C	ENSP00000263780.4:p.Phe150=
ENST00000466696.1:n.381T>C
ENST00000471660.5:c.327T>C	ENSP00000419998.1:p.Phe109=
ENST00000472024.2:c.498T>C	ENSP00000480032.1:p.Phe166=
ENST00000494980.5:c.360T>C	ENSP00000418920.1:p.Phe120=
NM_001244644.1:c.327T>C	NP_001231573.1:p.Phe109=
NM_014043.3:c.450T>C	NP_054762.2:p.Phe150=
XM_011533576.1:c.498T>C	XP_011531878.1:p.Phe166=
XM_011533576.2:c.498T>C	XP_011531878.1:p.Phe166=
NM_014043.4:c.450T>C MANE Select	NP_054762.2:p.Phe150=
NM_001244644.2:c.327T>C	NP_001231573.1:p.Phe109=