Canonical Allele Identifier: CA2363651

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122972T>G , CM000665.2:g.47122972T>G	GRCh38
NC_000003.11:g.47164462T>G , CM000665.1:g.47164462T>G	GRCh37
NC_000003.10:g.47139466T>G	NCBI36
NG_032091.1:g.46006A>C , LRG_775:g.46006A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.1664A>C MANE Select	NP_054878.5:p.Tyr555Ser
ENST00000409792.4:c.1664A>C MANE Select	ENSP00000386759.3:p.Tyr555Ser
NM_001349370.1:c.1532A>C	NP_001336299.1:p.Tyr511Ser
NM_001349370.2:c.1532A>C	NP_001336299.1:p.Tyr511Ser
NM_001349370.3:c.1532A>C	NP_001336299.1:p.Tyr511Ser
NM_014159.6:c.1664A>C , LRG_775t1:c.1664A>C	NP_054878.5:p.Tyr555Ser
NR_146158.1:n.1717A>C
NR_146158.2:n.1853A>C
NR_146158.3:n.1853A>C
ENST00000330022.11:c.1279A>C
ENST00000409792.3:c.1664A>C	ENSP00000386759.3:p.Tyr555Ser
ENST00000412450.1:c.1532A>C	ENSP00000416401.1:p.Tyr511Ser
ENST00000431180.5:c.816A>C
ENST00000445387.5:c.564A>C
ENST00000638947.2:c.1532A>C	ENSP00000491413.2:p.Tyr511Ser
ENST00000685005.1:c.1565A>C	ENSP00000509568.1:p.Tyr522Ser
ENST00000691544.1:c.72-24891A>C	ENSP00000510710.1:n.72-24891A>C
XM_011533631.1:c.1742A>C	XP_011531933.1:p.Tyr581Ser
XM_011533632.1:c.1688A>C	XP_011531934.1:p.Tyr563Ser
XM_011533632.3:c.1688A>C	XP_011531934.1:p.Tyr563Ser
XM_011533633.1:c.1742A>C	XP_011531935.1:p.Tyr581Ser
XM_011533634.1:c.1532A>C	XP_011531936.1:p.Tyr511Ser
XM_024453487.1:c.1532A>C	XP_024309255.1:p.Tyr511Ser
XM_024453488.1:c.1532A>C	XP_024309256.1:p.Tyr511Ser
XM_024453489.1:c.1532A>C	XP_024309257.1:p.Tyr511Ser
XR_001740131.2:n.1717A>C
XR_002959510.1:n.1593A>C
XR_002959511.1:n.1593A>C
XR_002959512.1:n.1593A>C
XR_002959513.1:n.1593A>C
XR_002959514.1:n.1593A>C
XR_002959515.1:n.1593A>C
XR_002959516.1:n.1593A>C
XR_002959517.1:n.1593A>C
XR_940418.1:n.1757A>C
XR_940419.1:n.1845A>C
XR_940420.1:n.1845A>C