Canonical Allele Identifier: CA352526514

Gene: SETD2

Linked Data

• MyVariant Identifiers: chr3:g.47163707A>C (hg19) ; chr3:g.47122217A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122217A>C , CM000665.2:g.47122217A>C	GRCh38
NC_000003.11:g.47163707A>C , CM000665.1:g.47163707A>C	GRCh37
NC_000003.10:g.47138711A>C	NCBI36
NG_032091.1:g.46761T>G , LRG_775:g.46761T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2287T>G	ENSP00000491413.2:p.Ser763Ala
ENST00000685005.1:c.2320T>G	ENSP00000509568.1:p.Ser774Ala
ENST00000685399.1:c.299T>G
ENST00000685505.1:c.360T>G
ENST00000686773.1:c.299T>G
ENST00000688290.1:c.299T>G
ENST00000690461.1:c.583T>G	ENSP00000509352.1:p.Ser195Ala
ENST00000691544.1:c.72-24136T>G	ENSP00000510710.1:n.72-24136T>G
ENST00000692883.1:c.360T>G
ENST00000693321.1:c.299T>G
ENST00000409792.4:c.2419T>G MANE Select	ENSP00000386759.3:p.Ser807Ala
ENST00000330022.11:c.2034T>G
ENST00000409792.3:c.2419T>G	ENSP00000386759.3:p.Ser807Ala
ENST00000412450.1:c.2287T>G	ENSP00000416401.1:p.Ser763Ala
ENST00000431180.5:c.1571T>G
ENST00000445387.5:c.1319T>G
NM_014159.6:c.2419T>G , LRG_775t1:c.2419T>G	NP_054878.5:p.Ser807Ala
XM_011533631.1:c.2497T>G	XP_011531933.1:p.Ser833Ala
XM_011533632.1:c.2443T>G	XP_011531934.1:p.Ser815Ala
XM_011533633.1:c.2497T>G	XP_011531935.1:p.Ser833Ala
XM_011533634.1:c.2287T>G	XP_011531936.1:p.Ser763Ala
XR_940418.1:n.2512T>G
XR_940419.1:n.2600T>G
XR_940420.1:n.2600T>G
NM_001349370.1:c.2287T>G	NP_001336299.1:p.Ser763Ala
NR_146158.1:n.2472T>G
XM_011533632.3:c.2443T>G	XP_011531934.1:p.Ser815Ala
XM_024453487.1:c.2287T>G	XP_024309255.1:p.Ser763Ala
XM_024453488.1:c.2287T>G	XP_024309256.1:p.Ser763Ala
XM_024453489.1:c.2287T>G	XP_024309257.1:p.Ser763Ala
XR_001740131.2:n.2472T>G
XR_002959510.1:n.2348T>G
XR_002959511.1:n.2348T>G
XR_002959512.1:n.2348T>G
XR_002959513.1:n.2348T>G
XR_002959514.1:n.2348T>G
XR_002959515.1:n.2348T>G
XR_002959516.1:n.2348T>G
XR_002959517.1:n.2348T>G
NM_001349370.2:c.2287T>G	NP_001336299.1:p.Ser763Ala
NR_146158.2:n.2608T>G
NM_001349370.3:c.2287T>G	NP_001336299.1:p.Ser763Ala
NM_014159.7:c.2419T>G MANE Select	NP_054878.5:p.Ser807Ala
NR_146158.3:n.2608T>G