Canonical Allele Identifier: CA353697500

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87253427-T-C
• MyVariant Identifiers: chr3:g.87302577T>C (hg19) ; chr3:g.87253427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253427T>C , CM000665.2:g.87253427T>C	GRCh38
NC_000003.11:g.87302577T>C , CM000665.1:g.87302577T>C	GRCh37
NC_000003.10:g.87385267T>C	NCBI36
NG_007885.1:g.31165T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.448T>C MANE Select	ENSP00000263780.4:p.Phe150Leu
ENST00000472024.3:c.496T>C	ENSP00000480032.2:p.Phe166Leu
ENST00000676705.1:c.496T>C	ENSP00000504098.1:p.Phe166Leu
ENST00000677929.1:n.4112T>C
ENST00000678859.1:n.4197T>C
ENST00000263780.8:c.448T>C	ENSP00000263780.4:p.Phe150Leu
ENST00000466696.1:n.379T>C
ENST00000471660.5:c.325T>C	ENSP00000419998.1:p.Phe109Leu
ENST00000472024.2:c.496T>C	ENSP00000480032.1:p.Phe166Leu
ENST00000494980.5:c.358T>C	ENSP00000418920.1:p.Phe120Leu
NM_001244644.1:c.325T>C	NP_001231573.1:p.Phe109Leu
NM_014043.3:c.448T>C	NP_054762.2:p.Phe150Leu
XM_011533576.1:c.496T>C	XP_011531878.1:p.Phe166Leu
XM_011533576.2:c.496T>C	XP_011531878.1:p.Phe166Leu
NM_014043.4:c.448T>C MANE Select	NP_054762.2:p.Phe150Leu
NM_001244644.2:c.325T>C	NP_001231573.1:p.Phe109Leu