Canonical Allele Identifier: CA73810235

Gene: SETD2

Linked Data

• ClinVar Variation Id: 1338324
• ClinVar RCV Id: RCV001817695
• dbSNP Id: rs1015887716
• gnomAD v3: 3-47122205-T-C
• gnomAD v4: 3-47122205-T-C
• MyVariant Identifiers: chr3:g.47163695T>C (hg19) ; chr3:g.47122205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122205T>C , CM000665.2:g.47122205T>C	GRCh38
NC_000003.11:g.47163695T>C , CM000665.1:g.47163695T>C	GRCh37
NC_000003.10:g.47138699T>C	NCBI36
NG_032091.1:g.46773A>G , LRG_775:g.46773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2299A>G	ENSP00000491413.2:p.Asn767Asp
ENST00000685005.1:c.2332A>G	ENSP00000509568.1:p.Asn778Asp
ENST00000685399.1:c.311A>G
ENST00000685505.1:c.372A>G
ENST00000686773.1:c.311A>G
ENST00000688290.1:c.311A>G
ENST00000690461.1:c.595A>G	ENSP00000509352.1:p.Asn199Asp
ENST00000691544.1:c.72-24124A>G	ENSP00000510710.1:n.72-24124A>G
ENST00000692883.1:c.372A>G
ENST00000693321.1:c.311A>G
ENST00000409792.4:c.2431A>G MANE Select	ENSP00000386759.3:p.Asn811Asp
ENST00000330022.11:c.2046A>G
ENST00000409792.3:c.2431A>G	ENSP00000386759.3:p.Asn811Asp
ENST00000412450.1:c.2299A>G	ENSP00000416401.1:p.Asn767Asp
ENST00000431180.5:c.1583A>G
ENST00000445387.5:c.1331A>G
NM_014159.6:c.2431A>G , LRG_775t1:c.2431A>G	NP_054878.5:p.Asn811Asp
XM_011533631.1:c.2509A>G	XP_011531933.1:p.Asn837Asp
XM_011533632.1:c.2455A>G	XP_011531934.1:p.Asn819Asp
XM_011533633.1:c.2509A>G	XP_011531935.1:p.Asn837Asp
XM_011533634.1:c.2299A>G	XP_011531936.1:p.Asn767Asp
XR_940418.1:n.2524A>G
XR_940419.1:n.2612A>G
XR_940420.1:n.2612A>G
NM_001349370.1:c.2299A>G	NP_001336299.1:p.Asn767Asp
NR_146158.1:n.2484A>G
XM_011533632.3:c.2455A>G	XP_011531934.1:p.Asn819Asp
XM_024453487.1:c.2299A>G	XP_024309255.1:p.Asn767Asp
XM_024453488.1:c.2299A>G	XP_024309256.1:p.Asn767Asp
XM_024453489.1:c.2299A>G	XP_024309257.1:p.Asn767Asp
XR_001740131.2:n.2484A>G
XR_002959510.1:n.2360A>G
XR_002959511.1:n.2360A>G
XR_002959512.1:n.2360A>G
XR_002959513.1:n.2360A>G
XR_002959514.1:n.2360A>G
XR_002959515.1:n.2360A>G
XR_002959516.1:n.2360A>G
XR_002959517.1:n.2360A>G
NM_001349370.2:c.2299A>G	NP_001336299.1:p.Asn767Asp
NR_146158.2:n.2620A>G
NM_001349370.3:c.2299A>G	NP_001336299.1:p.Asn767Asp
NM_014159.7:c.2431A>G MANE Select	NP_054878.5:p.Asn811Asp
NR_146158.3:n.2620A>G