Canonical Allele Identifier: CA2363429

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47121468C>T , CM000665.2:g.47121468C>T	GRCh38
NC_000003.11:g.47162958C>T , CM000665.1:g.47162958C>T	GRCh37
NC_000003.10:g.47137962C>T	NCBI36
NG_032091.1:g.47510G>A , LRG_775:g.47510G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.3168G>A MANE Select	NP_054878.5:p.Ser1056=
ENST00000409792.4:c.3168G>A MANE Select	ENSP00000386759.3:p.Ser1056=
NM_001349370.1:c.3036G>A	NP_001336299.1:p.Ser1012=
NM_001349370.2:c.3036G>A	NP_001336299.1:p.Ser1012=
NM_001349370.3:c.3036G>A	NP_001336299.1:p.Ser1012=
NM_014159.6:c.3168G>A , LRG_775t1:c.3168G>A	NP_054878.5:p.Ser1056=
NR_146158.1:n.3221G>A
NR_146158.2:n.3357G>A
NR_146158.3:n.3357G>A
ENST00000330022.11:c.2783G>A
ENST00000409792.3:c.3168G>A	ENSP00000386759.3:p.Ser1056=
ENST00000412450.1:c.3036G>A	ENSP00000416401.1:p.Ser1012=
ENST00000431180.5:c.2320G>A
ENST00000445387.5:c.2068G>A
ENST00000638947.2:c.3036G>A	ENSP00000491413.2:p.Ser1012=
ENST00000685005.1:c.3069G>A	ENSP00000509568.1:p.Ser1023=
ENST00000685399.1:c.1048G>A
ENST00000685505.1:c.1109G>A
ENST00000686773.1:c.1048G>A
ENST00000686876.1:c.184G>A
ENST00000688290.1:c.1048G>A
ENST00000690157.1:c.184G>A
ENST00000690461.1:c.1332G>A	ENSP00000509352.1:p.Ser444=
ENST00000691544.1:c.72-23387G>A	ENSP00000510710.1:n.72-23387G>A
ENST00000691902.1:c.184G>A
ENST00000692883.1:c.1109G>A
ENST00000693321.1:c.1048G>A
XM_011533631.1:c.3246G>A	XP_011531933.1:p.Ser1082=
XM_011533632.1:c.3192G>A	XP_011531934.1:p.Ser1064=
XM_011533632.3:c.3192G>A	XP_011531934.1:p.Ser1064=
XM_011533633.1:c.3246G>A	XP_011531935.1:p.Ser1082=
XM_011533634.1:c.3036G>A	XP_011531936.1:p.Ser1012=
XM_024453487.1:c.3036G>A	XP_024309255.1:p.Ser1012=
XM_024453488.1:c.3036G>A	XP_024309256.1:p.Ser1012=
XM_024453489.1:c.3036G>A	XP_024309257.1:p.Ser1012=
XR_001740131.2:n.3221G>A
XR_002959510.1:n.3097G>A
XR_002959511.1:n.3097G>A
XR_002959512.1:n.3097G>A
XR_002959513.1:n.3097G>A
XR_002959514.1:n.3097G>A
XR_002959515.1:n.3097G>A
XR_002959516.1:n.3097G>A
XR_002959517.1:n.3097G>A
XR_940418.1:n.3261G>A
XR_940419.1:n.3349G>A
XR_940420.1:n.3349G>A