Canonical Allele Identifier: CA162113

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47120374A>G , CM000665.2:g.47120374A>G	GRCh38
NC_000003.11:g.47161864A>G , CM000665.1:g.47161864A>G	GRCh37
NC_000003.10:g.47136868A>G	NCBI36
NG_032091.1:g.48604T>C , LRG_775:g.48604T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.4262T>C MANE Select	NP_054878.5:p.Leu1421Pro
ENST00000409792.4:c.4262T>C MANE Select	ENSP00000386759.3:p.Leu1421Pro
NM_001349370.1:c.4130T>C	NP_001336299.1:p.Leu1377Pro
NM_001349370.2:c.4130T>C	NP_001336299.1:p.Leu1377Pro
NM_001349370.3:c.4130T>C	NP_001336299.1:p.Leu1377Pro
NM_014159.6:c.4262T>C , LRG_775t1:c.4262T>C	NP_054878.5:p.Leu1421Pro
NR_146158.1:n.4315T>C
NR_146158.2:n.4451T>C
NR_146158.3:n.4451T>C
ENST00000330022.11:c.3877T>C
ENST00000409792.3:c.4262T>C	ENSP00000386759.3:p.Leu1421Pro
ENST00000431180.5:c.3414T>C
ENST00000445387.5:c.3162T>C
ENST00000638947.1:c.-89T>C	ENSP00000491413.1:n.-89T>C
ENST00000638947.2:c.4130T>C	ENSP00000491413.2:p.Leu1377Pro
ENST00000685005.1:c.4163T>C	ENSP00000509568.1:p.Leu1388Pro
ENST00000685399.1:c.2142T>C
ENST00000685505.1:c.2203T>C
ENST00000686773.1:c.2142T>C
ENST00000686876.1:c.1278T>C
ENST00000688290.1:c.2142T>C
ENST00000690157.1:c.1278T>C
ENST00000690461.1:c.2426T>C	ENSP00000509352.1:p.Leu809Pro
ENST00000691544.1:c.72-22293T>C	ENSP00000510710.1:n.72-22293T>C
ENST00000691902.1:c.1278T>C
ENST00000692883.1:c.2203T>C
ENST00000693321.1:c.2142T>C
XM_011533631.1:c.4340T>C	XP_011531933.1:p.Leu1447Pro
XM_011533632.1:c.4286T>C	XP_011531934.1:p.Leu1429Pro
XM_011533632.3:c.4286T>C	XP_011531934.1:p.Leu1429Pro
XM_011533633.1:c.4340T>C	XP_011531935.1:p.Leu1447Pro
XM_011533634.1:c.4130T>C	XP_011531936.1:p.Leu1377Pro
XM_024453487.1:c.4130T>C	XP_024309255.1:p.Leu1377Pro
XM_024453488.1:c.4130T>C	XP_024309256.1:p.Leu1377Pro
XM_024453489.1:c.4130T>C	XP_024309257.1:p.Leu1377Pro
XR_001740131.2:n.4315T>C
XR_002959510.1:n.4191T>C
XR_002959511.1:n.4191T>C
XR_002959512.1:n.4191T>C
XR_002959513.1:n.4191T>C
XR_002959514.1:n.4191T>C
XR_002959515.1:n.4191T>C
XR_002959516.1:n.4191T>C
XR_002959517.1:n.4191T>C
XR_940418.1:n.4355T>C
XR_940419.1:n.4443T>C
XR_940420.1:n.4443T>C