Canonical Allele Identifier: CA354758675

Gene: COPB2

Linked Data

• ClinVar Variation Id: 446713
• ClinVar RCV Id: RCV000516154
• dbSNP Id: rs1229568621
• gnomAD v2: 3-139092642-G-A
• gnomAD v3: 3-139373800-G-A
• gnomAD v4: 3-139373800-G-A
• COSMIC: COSM1039110
• MyVariant Identifiers: chr3:g.139092642G>A (hg19) ; chr3:g.139373800G>A (hg38)
• PubMed: PMID:29036432

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139373800G>A , CM000665.2:g.139373800G>A	GRCh38
NC_000003.11:g.139092642G>A , CM000665.1:g.139092642G>A	GRCh37
NC_000003.10:g.140575332G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333188.10:c.760C>T MANE Select	ENSP00000329419.4:p.Arg254Cys
ENST00000503326.6:c.760C>T	ENSP00000426682.2:p.Arg254Cys
ENST00000507777.6:c.673C>T	ENSP00000422295.1:p.Arg225Cys
ENST00000510181.6:c.526C>T	ENSP00000502846.1:p.Arg176Cys
ENST00000512242.6:c.673C>T	ENSP00000427185.2:p.Arg225Cys
ENST00000512309.2:c.760C>T	ENSP00000422917.2:p.Arg254Cys
ENST00000514508.2:c.673C>T	ENSP00000422469.2:p.Arg225Cys
ENST00000677073.1:c.*722C>T	ENSP00000504033.1:n.*722C>T
ENST00000677309.1:c.752-388C>T	ENSP00000503548.1:n.752-388C>T
ENST00000677601.1:c.785C>T	ENSP00000503393.1:p.Thr262Met
ENST00000677882.1:n.1547C>T
ENST00000333188.9:c.760C>T	ENSP00000329419.4:p.Arg254Cys
ENST00000507777.5:c.673C>T	ENSP00000422295.1:p.Arg225Cys
NM_004766.2:c.760C>T	NP_004757.1:p.Arg254Cys
NR_023350.1:n.969C>T
XM_011513317.1:c.133-388C>T	XP_011511619.1:n.133-388C>T
XM_017007513.1:c.133-388C>T	XP_016863002.1:n.133-388C>T
XM_024453831.1:c.133-388C>T	XP_024309599.1:n.133-388C>T
NM_004766.3:c.760C>T MANE Select	NP_004757.1:p.Arg254Cys