Canonical Allele Identifier: CA352526523

Gene: SETD2

Linked Data

• ClinVar Variation Id: 945942
• ClinVar RCV Id: RCV001216701
• dbSNP Id: rs2043125754
• MyVariant Identifiers: chr3:g.47163709T>G (hg19) ; chr3:g.47122219T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122219T>G , CM000665.2:g.47122219T>G	GRCh38
NC_000003.11:g.47163709T>G , CM000665.1:g.47163709T>G	GRCh37
NC_000003.10:g.47138713T>G	NCBI36
NG_032091.1:g.46759A>C , LRG_775:g.46759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2285A>C	ENSP00000491413.2:p.Asn762Thr
ENST00000685005.1:c.2318A>C	ENSP00000509568.1:p.Asn773Thr
ENST00000685399.1:c.297A>C
ENST00000685505.1:c.358A>C
ENST00000686773.1:c.297A>C
ENST00000688290.1:c.297A>C
ENST00000690461.1:c.581A>C	ENSP00000509352.1:p.Asn194Thr
ENST00000691544.1:c.72-24138A>C	ENSP00000510710.1:n.72-24138A>C
ENST00000692883.1:c.358A>C
ENST00000693321.1:c.297A>C
ENST00000409792.4:c.2417A>C MANE Select	ENSP00000386759.3:p.Asn806Thr
ENST00000330022.11:c.2032A>C
ENST00000409792.3:c.2417A>C	ENSP00000386759.3:p.Asn806Thr
ENST00000412450.1:c.2285A>C	ENSP00000416401.1:p.Asn762Thr
ENST00000431180.5:c.1569A>C
ENST00000445387.5:c.1317A>C
NM_014159.6:c.2417A>C , LRG_775t1:c.2417A>C	NP_054878.5:p.Asn806Thr
XM_011533631.1:c.2495A>C	XP_011531933.1:p.Asn832Thr
XM_011533632.1:c.2441A>C	XP_011531934.1:p.Asn814Thr
XM_011533633.1:c.2495A>C	XP_011531935.1:p.Asn832Thr
XM_011533634.1:c.2285A>C	XP_011531936.1:p.Asn762Thr
XR_940418.1:n.2510A>C
XR_940419.1:n.2598A>C
XR_940420.1:n.2598A>C
NM_001349370.1:c.2285A>C	NP_001336299.1:p.Asn762Thr
NR_146158.1:n.2470A>C
XM_011533632.3:c.2441A>C	XP_011531934.1:p.Asn814Thr
XM_024453487.1:c.2285A>C	XP_024309255.1:p.Asn762Thr
XM_024453488.1:c.2285A>C	XP_024309256.1:p.Asn762Thr
XM_024453489.1:c.2285A>C	XP_024309257.1:p.Asn762Thr
XR_001740131.2:n.2470A>C
XR_002959510.1:n.2346A>C
XR_002959511.1:n.2346A>C
XR_002959512.1:n.2346A>C
XR_002959513.1:n.2346A>C
XR_002959514.1:n.2346A>C
XR_002959515.1:n.2346A>C
XR_002959516.1:n.2346A>C
XR_002959517.1:n.2346A>C
NM_001349370.2:c.2285A>C	NP_001336299.1:p.Asn762Thr
NR_146158.2:n.2606A>C
NM_001349370.3:c.2285A>C	NP_001336299.1:p.Asn762Thr
NM_014159.7:c.2417A>C MANE Select	NP_054878.5:p.Asn806Thr
NR_146158.3:n.2606A>C