Canonical Allele Identifier: CA352540023

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47126656C>G , CM000665.2:g.47126656C>G	GRCh38
NC_000003.11:g.47168146C>G , CM000665.1:g.47168146C>G	GRCh37
NC_000003.10:g.47143150C>G	NCBI36
NG_032091.1:g.42322G>C , LRG_775:g.42322G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.79G>C MANE Select	NP_054878.5:p.Glu27Gln
ENST00000409792.4:c.79G>C MANE Select	ENSP00000386759.3:p.Glu27Gln
NM_001349370.1:c.-45-2108G>C	NP_001336299.1:n.-45-2108G>C
NM_001349370.2:c.-45-2108G>C	NP_001336299.1:n.-45-2108G>C
NM_001349370.3:c.-45-2108G>C	NP_001336299.1:n.-45-2108G>C
NM_014159.6:c.79G>C , LRG_775t1:c.79G>C	NP_054878.5:p.Glu27Gln
NR_146158.1:n.132G>C
NR_146158.2:n.268G>C
NR_146158.3:n.268G>C
ENST00000409792.3:c.79G>C	ENSP00000386759.3:p.Glu27Gln
ENST00000412450.1:c.-54G>C	ENSP00000416401.1:n.-54G>C
ENST00000638947.2:c.-45-2108G>C	ENSP00000491413.2:n.-45-2108G>C
ENST00000691544.1:c.72-28575G>C	ENSP00000510710.1:n.72-28575G>C
XM_011533631.1:c.157G>C	XP_011531933.1:p.Glu53Gln
XM_011533632.1:c.103G>C	XP_011531934.1:p.Glu35Gln
XM_011533632.3:c.103G>C	XP_011531934.1:p.Glu35Gln
XM_011533633.1:c.157G>C	XP_011531935.1:p.Glu53Gln
XM_011533634.1:c.-54G>C	XP_011531936.1:n.-54G>C
XM_024453487.1:c.-54G>C	XP_024309255.1:n.-54G>C
XM_024453488.1:c.-54G>C	XP_024309256.1:n.-54G>C
XM_024453489.1:c.-54G>C	XP_024309257.1:n.-54G>C
XR_001740131.2:n.132G>C
XR_002959510.1:n.8G>C
XR_002959511.1:n.8G>C
XR_002959512.1:n.8G>C
XR_002959513.1:n.8G>C
XR_002959514.1:n.8G>C
XR_002959515.1:n.8G>C
XR_002959516.1:n.8G>C
XR_002959517.1:n.8G>C
XR_940418.1:n.172G>C
XR_940419.1:n.260G>C
XR_940420.1:n.260G>C