Canonical Allele Identifier: CA3044588881

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47123454_47123456delinsTCT , CM000665.2:g.47123454_47123456delinsTCT	GRCh38
NC_000003.11:g.47164944_47164946delinsTCT , CM000665.1:g.47164944_47164946delinsTCT	GRCh37
NC_000003.10:g.47139948_47139950delinsTCT	NCBI36
NG_032091.1:g.45522_45524delinsAGA , LRG_775:g.45522_45524delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.1180_1182delinsAGA MANE Select	NP_054878.5:p.Cys394Arg
ENST00000409792.4:c.1180_1182delinsAGA MANE Select	ENSP00000386759.3:p.Cys394Arg
NM_001349370.1:c.1048_1050delinsAGA	NP_001336299.1:p.Cys350Arg
NM_001349370.2:c.1048_1050delinsAGA	NP_001336299.1:p.Cys350Arg
NM_001349370.3:c.1048_1050delinsAGA	NP_001336299.1:p.Cys350Arg
NM_014159.6:c.1180_1182delinsAGA , LRG_775t1:c.1180_1182delinsAGA	NP_054878.5:p.Cys394Arg
NR_146158.1:n.1233_1235delinsAGA
NR_146158.2:n.1369_1371delinsAGA
NR_146158.3:n.1369_1371delinsAGA
ENST00000330022.11:c.795_797delinsAGA
ENST00000409792.3:c.1180_1182delinsAGA	ENSP00000386759.3:p.Cys394Arg
ENST00000412450.1:c.1048_1050delinsAGA	ENSP00000416401.1:p.Cys350Arg
ENST00000431180.5:c.332_334delinsAGA
ENST00000445387.5:c.80_82delinsAGA
ENST00000638947.2:c.1048_1050delinsAGA	ENSP00000491413.2:p.Cys350Arg
ENST00000685005.1:c.1081_1083delinsAGA	ENSP00000509568.1:p.Cys361Arg
ENST00000691544.1:c.72-25375_72-25373delinsAGA	ENSP00000510710.1:n.72-25375_72-25373delinsAGA
XM_011533631.1:c.1258_1260delinsAGA	XP_011531933.1:p.Cys420Arg
XM_011533632.1:c.1204_1206delinsAGA	XP_011531934.1:p.Cys402Arg
XM_011533632.3:c.1204_1206delinsAGA	XP_011531934.1:p.Cys402Arg
XM_011533633.1:c.1258_1260delinsAGA	XP_011531935.1:p.Cys420Arg
XM_011533634.1:c.1048_1050delinsAGA	XP_011531936.1:p.Cys350Arg
XM_024453487.1:c.1048_1050delinsAGA	XP_024309255.1:p.Cys350Arg
XM_024453488.1:c.1048_1050delinsAGA	XP_024309256.1:p.Cys350Arg
XM_024453489.1:c.1048_1050delinsAGA	XP_024309257.1:p.Cys350Arg
XR_001740131.2:n.1233_1235delinsAGA
XR_002959510.1:n.1109_1111delinsAGA
XR_002959511.1:n.1109_1111delinsAGA
XR_002959512.1:n.1109_1111delinsAGA
XR_002959513.1:n.1109_1111delinsAGA
XR_002959514.1:n.1109_1111delinsAGA
XR_002959515.1:n.1109_1111delinsAGA
XR_002959516.1:n.1109_1111delinsAGA
XR_002959517.1:n.1109_1111delinsAGA
XR_940418.1:n.1273_1275delinsAGA
XR_940419.1:n.1361_1363delinsAGA
XR_940420.1:n.1361_1363delinsAGA