Canonical Allele Identifier: CA353696948

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87294960A>C (hg19) ; chr3:g.87245810A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245810A>C , CM000665.2:g.87245810A>C	GRCh38
NC_000003.11:g.87294960A>C , CM000665.1:g.87294960A>C	GRCh37
NC_000003.10:g.87377650A>C	NCBI36
NG_007885.1:g.23548A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.223A>C MANE Select	ENSP00000263780.4:p.Thr75Pro
ENST00000472024.3:c.271A>C	ENSP00000480032.2:p.Thr91Pro
ENST00000676705.1:c.271A>C	ENSP00000504098.1:p.Thr91Pro
ENST00000676947.1:n.376A>C
ENST00000677929.1:n.461A>C
ENST00000678818.1:n.1063-605A>C
ENST00000678859.1:n.546A>C
ENST00000263780.8:c.223A>C	ENSP00000263780.4:p.Thr75Pro
ENST00000471660.5:c.100A>C	ENSP00000419998.1:p.Thr34Pro
ENST00000472024.2:c.271A>C	ENSP00000480032.1:p.Thr91Pro
ENST00000494980.5:c.223A>C	ENSP00000418920.1:p.Thr75Pro
NM_001244644.1:c.100A>C	NP_001231573.1:p.Thr34Pro
NM_014043.3:c.223A>C	NP_054762.2:p.Thr75Pro
XM_011533576.1:c.271A>C	XP_011531878.1:p.Thr91Pro
XM_011533576.2:c.271A>C	XP_011531878.1:p.Thr91Pro
NM_014043.4:c.223A>C MANE Select	NP_054762.2:p.Thr75Pro
NM_001244644.2:c.100A>C	NP_001231573.1:p.Thr34Pro