Canonical Allele Identifier: CA2640871

Gene: MRPS22 COPB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139355766T>C , CM000665.2:g.139355766T>C	GRCh38
NC_000003.11:g.139074608T>C , CM000665.1:g.139074608T>C	GRCh37
NC_000003.10:g.140557298T>C	NCBI36
NG_012174.1:g.16748T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020191.4:c.963T>C (MRPS22) MANE Select	NP_064576.1:p.Ala321=
ENST00000680020.1:c.963T>C (MRPS22) MANE Select	ENSP00000505414.1:p.Ala321=
NM_001363857.1:c.840T>C (MRPS22)	NP_001350786.1:p.Ala280=
NM_001363893.1:c.960T>C (MRPS22)	NP_001350822.1:p.Ala320=
NM_020191.2:c.963T>C (MRPS22)	NP_064576.1:p.Ala321=
NM_020191.3:c.963T>C (MRPS22)	NP_064576.1:p.Ala321=
ENST00000310776.8:c.963T>C (MRPS22)	ENSP00000310785.4:p.Ala321=
ENST00000310776.9:c.960T>C (MRPS22)	ENSP00000310785.5:p.Ala320=
ENST00000465056.5:c.960T>C (MRPS22)	ENSP00000418233.1:p.Ala320=
ENST00000478464.5:c.840T>C (MRPS22)	ENSP00000419303.1:p.Ala280=
ENST00000478464.6:c.753T>C (MRPS22)	ENSP00000419303.2:p.Ala251=
ENST00000480644.2:c.879T>C (MRPS22)	ENSP00000420229.2:p.Ala293=
ENST00000480938.5:n.1617T>C (MRPS22)
ENST00000492644.1:n.2008T>C (MRPS22)
ENST00000492644.2:n.3217T>C (MRPS22)
ENST00000495075.5:c.963T>C (MRPS22)	ENSP00000418008.1:p.Ala321=
ENST00000498505.5:c.*560T>C (MRPS22)	ENSP00000420482.1:n.*560T>C
ENST00000502734.2:n.4495A>G (COPB2)
ENST00000503326.5:c.267A>G (COPB2)
ENST00000503326.6:c.2627A>G (COPB2)	ENSP00000426682.2:p.Gln876Arg
ENST00000677073.1:c.*4780A>G (COPB2)	ENSP00000504033.1:n.*4780A>G
ENST00000677309.1:c.*3817A>G (COPB2)	ENSP00000503548.1:n.*3817A>G
ENST00000677601.1:c.*4027A>G (COPB2)	ENSP00000503393.1:n.*4027A>G
ENST00000677882.1:n.10766A>G (COPB2)
ENST00000684961.1:c.582T>C (MRPS22)	ENSP00000508439.1:p.Ala194=
ENST00000686433.1:c.909T>C (MRPS22)	ENSP00000509173.1:p.Ala303=
ENST00000687538.1:c.753T>C (MRPS22)	ENSP00000508887.1:p.Ala251=
ENST00000688697.1:c.963T>C (MRPS22)	ENSP00000510396.1:p.Ala321=
ENST00000689286.1:c.753T>C (MRPS22)	ENSP00000509897.1:p.Ala251=
ENST00000689925.1:c.*304T>C (MRPS22)	ENSP00000510082.1:n.*304T>C
ENST00000690298.1:c.*604T>C (MRPS22)	ENSP00000509376.1:n.*604T>C
ENST00000691070.1:c.879T>C (MRPS22)	ENSP00000509723.1:p.Ala293=
ENST00000692727.1:n.3485T>C (MRPS22)
ENST00000693155.1:n.4529T>C (MRPS22)
XM_005247640.2:c.960T>C (MRPS22)	XP_005247697.1:p.Ala320=
XM_006713703.2:c.909T>C (MRPS22)	XP_006713766.1:p.Ala303=
XM_006713703.4:c.909T>C (MRPS22)	XP_006713766.1:p.Ala303=
XM_011512995.1:c.840T>C (MRPS22)	XP_011511297.1:p.Ala280=
XM_011512996.1:c.837T>C (MRPS22)	XP_011511298.1:p.Ala279=
XM_011512996.2:c.837T>C (MRPS22)	XP_011511298.1:p.Ala279=
XM_017007513.1:c.*2097A>G (COPB2)	XP_016863002.1:n.*2097A>G
XM_024453831.1:c.*2097A>G (COPB2)	XP_024309599.1:n.*2097A>G