Canonical Allele Identifier: CA79035744

Gene: CHMP2B

Linked Data

• dbSNP Id: rs370396849
• gnomAD v2: 3-87302491-T-G
• gnomAD v3: 3-87253341-T-G
• gnomAD v4: 3-87253341-T-G
• MyVariant Identifiers: chr3:g.87302491T>G (hg19) ; chr3:g.87253341T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253341T>G , CM000665.2:g.87253341T>G	GRCh38
NC_000003.11:g.87302491T>G , CM000665.1:g.87302491T>G	GRCh37
NC_000003.10:g.87385181T>G	NCBI36
NG_007885.1:g.31079T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-63T>G MANE Select	ENSP00000263780.4:n.425-63T>G
ENST00000472024.3:c.473-63T>G	ENSP00000480032.2:n.473-63T>G
ENST00000676705.1:c.473-63T>G	ENSP00000504098.1:n.473-63T>G
ENST00000677929.1:n.4026T>G
ENST00000678859.1:n.4111T>G
ENST00000263780.8:c.425-63T>G	ENSP00000263780.4:n.425-63T>G
ENST00000466696.1:n.293T>G
ENST00000471660.5:c.302-63T>G	ENSP00000419998.1:n.302-63T>G
ENST00000472024.2:c.473-63T>G	ENSP00000480032.1:n.473-63T>G
ENST00000494980.5:c.335-63T>G	ENSP00000418920.1:n.335-63T>G
NM_001244644.1:c.302-63T>G	NP_001231573.1:n.302-63T>G
NM_014043.3:c.425-63T>G	NP_054762.2:n.425-63T>G
XM_011533576.1:c.473-63T>G	XP_011531878.1:n.473-63T>G
XM_011533576.2:c.473-63T>G	XP_011531878.1:n.473-63T>G
NM_014043.4:c.425-63T>G MANE Select	NP_054762.2:n.425-63T>G
NM_001244644.2:c.302-63T>G	NP_001231573.1:n.302-63T>G