Canonical Allele Identifier: CA353697514

Gene: CHMP2B

Linked Data

• dbSNP Id: rs760794461
• gnomAD v2: 3-87302583-G-A
• gnomAD v3: 3-87253433-G-A
• gnomAD v4: 3-87253433-G-A
• MyVariant Identifiers: chr3:g.87302583G>A (hg19) ; chr3:g.87253433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253433G>A , CM000665.2:g.87253433G>A	GRCh38
NC_000003.11:g.87302583G>A , CM000665.1:g.87302583G>A	GRCh37
NC_000003.10:g.87385273G>A	NCBI36
NG_007885.1:g.31171G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.454G>A MANE Select	ENSP00000263780.4:p.Gly152Ser
ENST00000472024.3:c.502G>A	ENSP00000480032.2:p.Gly168Ser
ENST00000676705.1:c.502G>A	ENSP00000504098.1:p.Gly168Ser
ENST00000677929.1:n.4118G>A
ENST00000678859.1:n.4203G>A
ENST00000263780.8:c.454G>A	ENSP00000263780.4:p.Gly152Ser
ENST00000466696.1:n.385G>A
ENST00000471660.5:c.331G>A	ENSP00000419998.1:p.Gly111Ser
ENST00000472024.2:c.502G>A	ENSP00000480032.1:p.Gly168Ser
ENST00000494980.5:c.364G>A	ENSP00000418920.1:p.Gly122Ser
NM_001244644.1:c.331G>A	NP_001231573.1:p.Gly111Ser
NM_014043.3:c.454G>A	NP_054762.2:p.Gly152Ser
XM_011533576.1:c.502G>A	XP_011531878.1:p.Gly168Ser
XM_011533576.2:c.502G>A	XP_011531878.1:p.Gly168Ser
NM_014043.4:c.454G>A MANE Select	NP_054762.2:p.Gly152Ser
NM_001244644.2:c.331G>A	NP_001231573.1:p.Gly111Ser