Canonical Allele Identifier: CA11593018

Gene: SETD2

Linked Data

• ClinVar Variation Id: 1221230
• ClinVar RCV Id: RCV001597419
• dbSNP Id: rs2290547
• gnomAD v2: 3-47061183-G-A
• gnomAD v3: 3-47019693-G-A
• gnomAD v4: 3-47019693-G-A
• MyVariant Identifiers: chr3:g.47061183G>A (hg19) ; chr3:g.47019693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47019693G>A , CM000665.2:g.47019693G>A	GRCh38
NC_000003.11:g.47061183G>A , CM000665.1:g.47061183G>A	GRCh37
NC_000003.10:g.47036187G>A	NCBI36
NG_032091.1:g.149285C>T , LRG_775:g.149285C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000638947.2:c.7299+67C>T	ENSP00000491413.2:n.7299+67C>T
ENST00000685005.1:c.7197+67C>T	ENSP00000509568.1:n.7197+67C>T
ENST00000685237.1:n.4240+67C>T
ENST00000685505.1:c.5755+67C>T
ENST00000686773.1:c.5594+67C>T
ENST00000686792.1:n.1653+67C>T
ENST00000686876.1:c.4147+67C>T
ENST00000687657.1:n.1650+67C>T
ENST00000688290.1:c.5270+67C>T
ENST00000690157.1:c.3784+67C>T
ENST00000690461.1:c.5719+67C>T	ENSP00000509352.1:n.5719+67C>T
ENST00000691544.1:c.2487+67C>T	ENSP00000510710.1:n.2487+67C>T
ENST00000691902.1:c.3226+67C>T
ENST00000692362.1:n.3360+67C>T
ENST00000692883.1:c.5836+67C>T
ENST00000693321.1:c.5690+67C>T
ENST00000693738.1:n.2872+67C>T
ENST00000409792.4:c.7431+67C>T MANE Select	ENSP00000386759.3:n.7431+67C>T
ENST00000330022.11:c.7251+67C>T
ENST00000409792.3:c.7431+67C>T	ENSP00000386759.3:n.7431+67C>T
ENST00000431180.5:c.6627+67C>T
ENST00000445387.5:c.6407+67C>T
NM_014159.6:c.7431+67C>T , LRG_775t1:c.7431+67C>T	NP_054878.5:n.7431+67C>T
XM_011533631.1:c.7509+67C>T	XP_011531933.1:n.7509+67C>T
XM_011533632.1:c.7455+67C>T	XP_011531934.1:n.7455+67C>T
XM_011533633.1:c.7374+67C>T	XP_011531935.1:n.7374+67C>T
XM_011533634.1:c.7299+67C>T	XP_011531936.1:n.7299+67C>T
XR_940418.1:n.7648+67C>T
NM_001349370.1:c.7299+67C>T	NP_001336299.1:n.7299+67C>T
NR_146158.1:n.7652+67C>T
XM_011533632.3:c.7455+67C>T	XP_011531934.1:n.7455+67C>T
XM_024453487.1:c.7164+67C>T	XP_024309255.1:n.7164+67C>T
XM_024453488.1:c.6999+67C>T	XP_024309256.1:n.6999+67C>T
XR_001740131.2:n.7467+67C>T
XR_002959510.1:n.7484+67C>T
XR_002959511.1:n.7643+67C>T
XR_002959512.1:n.7743+67C>T
XR_002959513.1:n.7577+67C>T
XR_002959515.1:n.7608+67C>T
NM_001349370.2:c.7299+67C>T	NP_001336299.1:n.7299+67C>T
NR_146158.2:n.7788+67C>T
NM_001349370.3:c.7299+67C>T	NP_001336299.1:n.7299+67C>T
NM_014159.7:c.7431+67C>T MANE Select	NP_054878.5:n.7431+67C>T
NR_146158.3:n.7788+67C>T