Canonical Allele Identifier: CA2500937

Gene: CHMP2B

Linked Data

• dbSNP Id: rs760226693
• ExAC: 3:87294952 A / G
• gnomAD v2: 3-87294952-A-G
• gnomAD v3: 3-87245802-A-G
• gnomAD v4: 3-87245802-A-G
• MyVariant Identifiers: chr3:g.87294952A>G (hg19) ; chr3:g.87245802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245802A>G , CM000665.2:g.87245802A>G	GRCh38
NC_000003.11:g.87294952A>G , CM000665.1:g.87294952A>G	GRCh37
NC_000003.10:g.87377642A>G	NCBI36
NG_007885.1:g.23540A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.215A>G MANE Select	ENSP00000263780.4:p.Lys72Arg
ENST00000472024.3:c.263A>G	ENSP00000480032.2:p.Lys88Arg
ENST00000676705.1:c.263A>G	ENSP00000504098.1:p.Lys88Arg
ENST00000676947.1:n.368A>G
ENST00000677929.1:n.453A>G
ENST00000678818.1:n.1063-613A>G
ENST00000678859.1:n.538A>G
ENST00000263780.8:c.215A>G	ENSP00000263780.4:p.Lys72Arg
ENST00000471660.5:c.92A>G	ENSP00000419998.1:p.Lys31Arg
ENST00000472024.2:c.263A>G	ENSP00000480032.1:p.Lys88Arg
ENST00000494980.5:c.215A>G	ENSP00000418920.1:p.Lys72Arg
NM_001244644.1:c.92A>G	NP_001231573.1:p.Lys31Arg
NM_014043.3:c.215A>G	NP_054762.2:p.Lys72Arg
XM_011533576.1:c.263A>G	XP_011531878.1:p.Lys88Arg
XM_011533576.2:c.263A>G	XP_011531878.1:p.Lys88Arg
NM_014043.4:c.215A>G MANE Select	NP_054762.2:p.Lys72Arg
NM_001244644.2:c.92A>G	NP_001231573.1:p.Lys31Arg