Canonical Allele Identifier: CA353697489

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87302572A>T (hg19) ; chr3:g.87253422A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253422A>T , CM000665.2:g.87253422A>T	GRCh38
NC_000003.11:g.87302572A>T , CM000665.1:g.87302572A>T	GRCh37
NC_000003.10:g.87385262A>T	NCBI36
NG_007885.1:g.31160A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.443A>T MANE Select	ENSP00000263780.4:p.Asp148Val
ENST00000472024.3:c.491A>T	ENSP00000480032.2:p.Asp164Val
ENST00000676705.1:c.491A>T	ENSP00000504098.1:p.Asp164Val
ENST00000677929.1:n.4107A>T
ENST00000678859.1:n.4192A>T
ENST00000263780.8:c.443A>T	ENSP00000263780.4:p.Asp148Val
ENST00000466696.1:n.374A>T
ENST00000471660.5:c.320A>T	ENSP00000419998.1:p.Asp107Val
ENST00000472024.2:c.491A>T	ENSP00000480032.1:p.Asp164Val
ENST00000494980.5:c.353A>T	ENSP00000418920.1:p.Asp118Val
NM_001244644.1:c.320A>T	NP_001231573.1:p.Asp107Val
NM_014043.3:c.443A>T	NP_054762.2:p.Asp148Val
XM_011533576.1:c.491A>T	XP_011531878.1:p.Asp164Val
XM_011533576.2:c.491A>T	XP_011531878.1:p.Asp164Val
NM_014043.4:c.443A>T MANE Select	NP_054762.2:p.Asp148Val
NM_001244644.2:c.320A>T	NP_001231573.1:p.Asp107Val