Canonical Allele Identifier: CA2500936

Gene: CHMP2B

Linked Data

• dbSNP Id: rs772729869
• ExAC: 3:87294951 A / C
• gnomAD v2: 3-87294951-A-C
• gnomAD v3: 3-87245801-A-C
• gnomAD v4: 3-87245801-A-C
• MyVariant Identifiers: chr3:g.87294951A>C (hg19) ; chr3:g.87245801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245801A>C , CM000665.2:g.87245801A>C	GRCh38
NC_000003.11:g.87294951A>C , CM000665.1:g.87294951A>C	GRCh37
NC_000003.10:g.87377641A>C	NCBI36
NG_007885.1:g.23539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.214A>C MANE Select	ENSP00000263780.4:p.Lys72Gln
ENST00000472024.3:c.262A>C	ENSP00000480032.2:p.Lys88Gln
ENST00000676705.1:c.262A>C	ENSP00000504098.1:p.Lys88Gln
ENST00000676947.1:n.367A>C
ENST00000677929.1:n.452A>C
ENST00000678818.1:n.1063-614A>C
ENST00000678859.1:n.537A>C
ENST00000263780.8:c.214A>C	ENSP00000263780.4:p.Lys72Gln
ENST00000471660.5:c.91A>C	ENSP00000419998.1:p.Lys31Gln
ENST00000472024.2:c.262A>C	ENSP00000480032.1:p.Lys88Gln
ENST00000494980.5:c.214A>C	ENSP00000418920.1:p.Lys72Gln
NM_001244644.1:c.91A>C	NP_001231573.1:p.Lys31Gln
NM_014043.3:c.214A>C	NP_054762.2:p.Lys72Gln
XM_011533576.1:c.262A>C	XP_011531878.1:p.Lys88Gln
XM_011533576.2:c.262A>C	XP_011531878.1:p.Lys88Gln
NM_014043.4:c.214A>C MANE Select	NP_054762.2:p.Lys72Gln
NM_001244644.2:c.91A>C	NP_001231573.1:p.Lys31Gln