Canonical Allele Identifier: CA354754119

Gene: COPB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139369305C>T , CM000665.2:g.139369305C>T	GRCh38
NC_000003.11:g.139088147C>T , CM000665.1:g.139088147C>T	GRCh37
NC_000003.10:g.140570837C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004766.3:c.1357G>A MANE Select	NP_004757.1:p.Asp453Asn
ENST00000333188.10:c.1357G>A MANE Select	ENSP00000329419.4:p.Asp453Asn
NM_004766.2:c.1357G>A	NP_004757.1:p.Asp453Asn
NR_023350.1:n.1566G>A
ENST00000333188.9:c.1357G>A	ENSP00000329419.4:p.Asp453Asn
ENST00000503326.6:c.1357G>A	ENSP00000426682.2:p.Asp453Asn
ENST00000507777.5:c.1270G>A	ENSP00000422295.1:p.Asp424Asn
ENST00000507777.6:c.1270G>A	ENSP00000422295.1:p.Asp424Asn
ENST00000510181.6:c.1123G>A	ENSP00000502846.1:p.Asp375Asn
ENST00000512242.6:c.1270G>A	ENSP00000427185.2:p.Asp424Asn
ENST00000512309.1:c.226G>A	ENSP00000422917.1:p.Asp76Asn
ENST00000512309.2:c.1357G>A	ENSP00000422917.2:p.Asp453Asn
ENST00000514508.2:c.1270G>A	ENSP00000422469.2:p.Asp424Asn
ENST00000677073.1:c.*1319G>A	ENSP00000504033.1:n.*1319G>A
ENST00000677309.1:c.*356G>A	ENSP00000503548.1:n.*356G>A
ENST00000677601.1:c.*566G>A	ENSP00000503393.1:n.*566G>A
ENST00000677882.1:n.2144G>A
XM_011513317.1:c.595G>A	XP_011511619.1:p.Asp199Asn
XM_017007513.1:c.595G>A	XP_016863002.1:p.Asp199Asn
XM_024453831.1:c.595G>A	XP_024309599.1:p.Asp199Asn