Canonical Allele Identifier: CA434576671

Gene: CHMP2B

Linked Data

• gnomAD v4: 3-87253426-C-T
• MyVariant Identifiers: chr3:g.87302576C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253426C>T , CM000665.2:g.87253426C>T	GRCh38
NC_000003.11:g.87302576C>T , CM000665.1:g.87302576C>T	GRCh37
NC_000003.10:g.87385266C>T	NCBI36
NG_007885.1:g.31164C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263780.9:c.447C>T MANE Select	ENSP00000263780.4:p.Ile149=
ENST00000472024.3:c.495C>T	ENSP00000480032.2:p.Ile165=
ENST00000676705.1:c.495C>T	ENSP00000504098.1:p.Ile165=
ENST00000677929.1:n.4111C>T
ENST00000678859.1:n.4196C>T
ENST00000263780.8:c.447C>T	ENSP00000263780.4:p.Ile149=
ENST00000466696.1:n.378C>T
ENST00000471660.5:c.324C>T	ENSP00000419998.1:p.Ile108=
ENST00000472024.2:c.495C>T	ENSP00000480032.1:p.Ile165=
ENST00000494980.5:c.357C>T	ENSP00000418920.1:p.Ile119=
NM_001244644.1:c.324C>T	NP_001231573.1:p.Ile108=
NM_014043.3:c.447C>T	NP_054762.2:p.Ile149=
XM_011533576.1:c.495C>T	XP_011531878.1:p.Ile165=
XM_011533576.2:c.495C>T	XP_011531878.1:p.Ile165=
NM_014043.4:c.447C>T MANE Select	NP_054762.2:p.Ile149=
NM_001244644.2:c.324C>T	NP_001231573.1:p.Ile108=