Canonical Allele Identifier: CA352511042

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47088154C>A , CM000665.2:g.47088154C>A	GRCh38
NC_000003.11:g.47129644C>A , CM000665.1:g.47129644C>A	GRCh37
NC_000003.10:g.47104648C>A	NCBI36
NG_032091.1:g.80824G>T , LRG_775:g.80824G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5236G>T MANE Select	NP_054878.5:p.Glu1746Ter
ENST00000409792.4:c.5236G>T MANE Select	ENSP00000386759.3:p.Glu1746Ter
NM_001349370.1:c.5104G>T	NP_001336299.1:p.Glu1702Ter
NM_001349370.2:c.5104G>T	NP_001336299.1:p.Glu1702Ter
NM_001349370.3:c.5104G>T	NP_001336299.1:p.Glu1702Ter
NM_014159.6:c.5236G>T , LRG_775t1:c.5236G>T	NP_054878.5:p.Glu1746Ter
NR_146158.1:n.5289G>T
NR_146158.2:n.5425G>T
NR_146158.3:n.5425G>T
ENST00000330022.11:c.5056G>T
ENST00000409792.3:c.5236G>T	ENSP00000386759.3:p.Glu1746Ter
ENST00000431180.5:c.4264G>T
ENST00000445387.5:c.4136G>T
ENST00000638947.1:c.886G>T	ENSP00000491413.1:p.Glu296Ter
ENST00000638947.2:c.5104G>T	ENSP00000491413.2:p.Glu1702Ter
ENST00000685005.1:c.5044-1840G>T	ENSP00000509568.1:n.5044-1840G>T
ENST00000685237.1:n.1987-1840G>T
ENST00000685399.1:c.3116G>T
ENST00000685505.1:c.3177G>T
ENST00000686773.1:c.3116G>T
ENST00000686876.1:c.1952G>T
ENST00000688290.1:c.3116G>T
ENST00000690157.1:c.2252G>T
ENST00000690461.1:c.3400G>T	ENSP00000509352.1:p.Glu1134Ter
ENST00000691544.1:c.292G>T	ENSP00000510710.1:p.Glu98Ter
ENST00000691902.1:c.1855+17843G>T
ENST00000692362.1:n.1041G>T
ENST00000692883.1:c.3177G>T
ENST00000693321.1:c.3116G>T
XM_011533631.1:c.5314G>T	XP_011531933.1:p.Glu1772Ter
XM_011533632.1:c.5260G>T	XP_011531934.1:p.Glu1754Ter
XM_011533632.3:c.5260G>T	XP_011531934.1:p.Glu1754Ter
XM_011533633.1:c.5221-1840G>T	XP_011531935.1:n.5221-1840G>T
XM_011533634.1:c.5104G>T	XP_011531936.1:p.Glu1702Ter
XM_024453487.1:c.5011-1840G>T	XP_024309255.1:n.5011-1840G>T
XM_024453488.1:c.4804G>T	XP_024309256.1:p.Glu1602Ter
XM_024453489.1:c.*11-1840G>T	XP_024309257.1:n.*11-1840G>T
XR_001740131.2:n.4989G>T
XR_002959510.1:n.5165G>T
XR_002959511.1:n.5165G>T
XR_002959512.1:n.5165G>T
XR_002959513.1:n.5165G>T
XR_002959514.1:n.5165G>T
XR_002959515.1:n.5072-1840G>T
XR_002959516.1:n.5067G>T
XR_002959517.1:n.5067G>T
XR_940418.1:n.5329G>T
XR_940419.1:n.5417G>T
XR_940420.1:n.5417G>T