Canonical Allele Identifier: CA352526451

Gene: SETD2

Linked Data

• dbSNP Id: rs2043124182
• MyVariant Identifiers: chr3:g.47163683A>G (hg19) ; chr3:g.47122193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122193A>G , CM000665.2:g.47122193A>G	GRCh38
NC_000003.11:g.47163683A>G , CM000665.1:g.47163683A>G	GRCh37
NC_000003.10:g.47138687A>G	NCBI36
NG_032091.1:g.46785T>C , LRG_775:g.46785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2311T>C	ENSP00000491413.2:p.Ser771Pro
ENST00000685005.1:c.2344T>C	ENSP00000509568.1:p.Ser782Pro
ENST00000685399.1:c.323T>C
ENST00000685505.1:c.384T>C
ENST00000686773.1:c.323T>C
ENST00000688290.1:c.323T>C
ENST00000690461.1:c.607T>C	ENSP00000509352.1:p.Ser203Pro
ENST00000691544.1:c.72-24112T>C	ENSP00000510710.1:n.72-24112T>C
ENST00000692883.1:c.384T>C
ENST00000693321.1:c.323T>C
ENST00000409792.4:c.2443T>C MANE Select	ENSP00000386759.3:p.Ser815Pro
ENST00000330022.11:c.2058T>C
ENST00000409792.3:c.2443T>C	ENSP00000386759.3:p.Ser815Pro
ENST00000412450.1:c.2311T>C	ENSP00000416401.1:p.Ser771Pro
ENST00000431180.5:c.1595T>C
ENST00000445387.5:c.1343T>C
NM_014159.6:c.2443T>C , LRG_775t1:c.2443T>C	NP_054878.5:p.Ser815Pro
XM_011533631.1:c.2521T>C	XP_011531933.1:p.Ser841Pro
XM_011533632.1:c.2467T>C	XP_011531934.1:p.Ser823Pro
XM_011533633.1:c.2521T>C	XP_011531935.1:p.Ser841Pro
XM_011533634.1:c.2311T>C	XP_011531936.1:p.Ser771Pro
XR_940418.1:n.2536T>C
XR_940419.1:n.2624T>C
XR_940420.1:n.2624T>C
NM_001349370.1:c.2311T>C	NP_001336299.1:p.Ser771Pro
NR_146158.1:n.2496T>C
XM_011533632.3:c.2467T>C	XP_011531934.1:p.Ser823Pro
XM_024453487.1:c.2311T>C	XP_024309255.1:p.Ser771Pro
XM_024453488.1:c.2311T>C	XP_024309256.1:p.Ser771Pro
XM_024453489.1:c.2311T>C	XP_024309257.1:p.Ser771Pro
XR_001740131.2:n.2496T>C
XR_002959510.1:n.2372T>C
XR_002959511.1:n.2372T>C
XR_002959512.1:n.2372T>C
XR_002959513.1:n.2372T>C
XR_002959514.1:n.2372T>C
XR_002959515.1:n.2372T>C
XR_002959516.1:n.2372T>C
XR_002959517.1:n.2372T>C
NM_001349370.2:c.2311T>C	NP_001336299.1:p.Ser771Pro
NR_146158.2:n.2632T>C
NM_001349370.3:c.2311T>C	NP_001336299.1:p.Ser771Pro
NM_014159.7:c.2443T>C MANE Select	NP_054878.5:p.Ser815Pro
NR_146158.3:n.2632T>C