Canonical Allele Identifier: CA2573052095

Gene: COPB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139369513_139369514del , CM000665.2:g.139369513_139369514del	GRCh38
NC_000003.11:g.139088355_139088356del , CM000665.1:g.139088355_139088356del	GRCh37
NC_000003.10:g.140571045_140571046del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004766.3:c.1237_1238del MANE Select	NP_004757.1:p.Lys413AspfsTer3
ENST00000333188.10:c.1237_1238del MANE Select	ENSP00000329419.4:p.Lys413AspfsTer3
NM_004766.2:c.1237_1238del	NP_004757.1:p.Lys413AspfsTer3
NR_023350.1:n.1446_1447del
ENST00000333188.9:c.1237_1238del	ENSP00000329419.4:p.Lys413AspfsTer3
ENST00000503326.6:c.1237_1238del	ENSP00000426682.2:p.Lys413AspfsTer3
ENST00000507777.5:c.1150_1151del	ENSP00000422295.1:p.Lys384AspfsTer3
ENST00000507777.6:c.1150_1151del	ENSP00000422295.1:p.Lys384AspfsTer3
ENST00000510181.6:c.1003_1004del	ENSP00000502846.1:p.Lys335AspfsTer3
ENST00000512242.6:c.1150_1151del	ENSP00000427185.2:p.Lys384AspfsTer3
ENST00000512309.1:c.106_107del	ENSP00000422917.1:p.Lys36AspfsTer3
ENST00000512309.2:c.1237_1238del	ENSP00000422917.2:p.Lys413AspfsTer3
ENST00000514508.2:c.1150_1151del	ENSP00000422469.2:p.Lys384AspfsTer3
ENST00000677073.1:c.*1199_*1200del	ENSP00000504033.1:n.*1199_*1200del
ENST00000677309.1:c.*236_*237del	ENSP00000503548.1:n.*236_*237del
ENST00000677601.1:c.*446_*447del	ENSP00000503393.1:n.*446_*447del
ENST00000677882.1:n.2024_2025del
XM_011513317.1:c.475_476del	XP_011511619.1:p.Lys159AspfsTer3
XM_017007513.1:c.475_476del	XP_016863002.1:p.Lys159AspfsTer3
XM_024453831.1:c.475_476del	XP_024309599.1:p.Lys159AspfsTer3