Canonical Allele Identifier: CA83996140

Gene: MRPS22 COPB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139355957T>C , CM000665.2:g.139355957T>C	GRCh38
NC_000003.11:g.139074799T>C , CM000665.1:g.139074799T>C	GRCh37
NC_000003.10:g.140557489T>C	NCBI36
NG_012174.1:g.16939T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020191.4:c.987+167T>C (MRPS22) MANE Select	NP_064576.1:n.987+167T>C
ENST00000680020.1:c.987+167T>C (MRPS22) MANE Select	ENSP00000505414.1:n.987+167T>C
NM_001363857.1:c.864+167T>C (MRPS22)	NP_001350786.1:n.864+167T>C
NM_001363893.1:c.984+167T>C (MRPS22)	NP_001350822.1:n.984+167T>C
NM_020191.2:c.987+167T>C (MRPS22)	NP_064576.1:n.987+167T>C
NM_020191.3:c.987+167T>C (MRPS22)	NP_064576.1:n.987+167T>C
ENST00000310776.8:c.987+167T>C (MRPS22)	ENSP00000310785.4:n.987+167T>C
ENST00000310776.9:c.984+167T>C (MRPS22)	ENSP00000310785.5:n.984+167T>C
ENST00000465056.5:c.984+167T>C (MRPS22)	ENSP00000418233.1:n.984+167T>C
ENST00000478464.5:c.864+167T>C (MRPS22)	ENSP00000419303.1:n.864+167T>C
ENST00000478464.6:c.777+167T>C (MRPS22)	ENSP00000419303.2:n.777+167T>C
ENST00000480644.2:c.*80T>C (MRPS22)	ENSP00000420229.2:n.*80T>C
ENST00000480938.5:n.1641+167T>C (MRPS22)
ENST00000492644.1:n.2032+167T>C (MRPS22)
ENST00000492644.2:n.3241+167T>C (MRPS22)
ENST00000495075.5:c.987+167T>C (MRPS22)	ENSP00000418008.1:n.987+167T>C
ENST00000498505.5:c.*584+167T>C (MRPS22)	ENSP00000420482.1:n.*584+167T>C
ENST00000502734.2:n.4304A>G (COPB2)
ENST00000503326.5:c.266-190A>G (COPB2)
ENST00000503326.6:c.2626-190A>G (COPB2)	ENSP00000426682.2:n.2626-190A>G
ENST00000677073.1:c.*4589A>G (COPB2)	ENSP00000504033.1:n.*4589A>G
ENST00000677309.1:c.*3626A>G (COPB2)	ENSP00000503548.1:n.*3626A>G
ENST00000677601.1:c.*3836A>G (COPB2)	ENSP00000503393.1:n.*3836A>G
ENST00000677882.1:n.10575A>G (COPB2)
ENST00000684961.1:c.606+167T>C (MRPS22)	ENSP00000508439.1:n.606+167T>C
ENST00000686433.1:c.933+167T>C (MRPS22)	ENSP00000509173.1:n.933+167T>C
ENST00000687538.1:c.777+167T>C (MRPS22)	ENSP00000508887.1:n.777+167T>C
ENST00000688697.1:c.987+167T>C (MRPS22)	ENSP00000510396.1:n.987+167T>C
ENST00000689286.1:c.777+167T>C (MRPS22)	ENSP00000509897.1:n.777+167T>C
ENST00000689925.1:c.*328+167T>C (MRPS22)	ENSP00000510082.1:n.*328+167T>C
ENST00000690298.1:c.*628+167T>C (MRPS22)	ENSP00000509376.1:n.*628+167T>C
ENST00000691070.1:c.903+167T>C (MRPS22)	ENSP00000509723.1:n.903+167T>C
ENST00000692727.1:n.3509+167T>C (MRPS22)
ENST00000693155.1:n.4553+167T>C (MRPS22)
XM_005247640.2:c.984+167T>C (MRPS22)	XP_005247697.1:n.984+167T>C
XM_006713703.2:c.933+167T>C (MRPS22)	XP_006713766.1:n.933+167T>C
XM_006713703.4:c.933+167T>C (MRPS22)	XP_006713766.1:n.933+167T>C
XM_011512995.1:c.864+167T>C (MRPS22)	XP_011511297.1:n.864+167T>C
XM_011512996.1:c.861+167T>C (MRPS22)	XP_011511298.1:n.861+167T>C
XM_011512996.2:c.861+167T>C (MRPS22)	XP_011511298.1:n.861+167T>C
XM_017007513.1:c.*1906A>G (COPB2)	XP_016863002.1:n.*1906A>G
XM_024453831.1:c.*1906A>G (COPB2)	XP_024309599.1:n.*1906A>G