Canonical Allele Identifier: CA352526670

Gene: SETD2

Linked Data

• dbSNP Id: rs1448411812
• MyVariant Identifiers: chr3:g.47163749T>A (hg19) ; chr3:g.47122259T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122259T>A , CM000665.2:g.47122259T>A	GRCh38
NC_000003.11:g.47163749T>A , CM000665.1:g.47163749T>A	GRCh37
NC_000003.10:g.47138753T>A	NCBI36
NG_032091.1:g.46719A>T , LRG_775:g.46719A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2245A>T	ENSP00000491413.2:p.Ile749Leu
ENST00000685005.1:c.2278A>T	ENSP00000509568.1:p.Ile760Leu
ENST00000685399.1:c.257A>T
ENST00000685505.1:c.318A>T
ENST00000686773.1:c.257A>T
ENST00000688290.1:c.257A>T
ENST00000690461.1:c.541A>T	ENSP00000509352.1:p.Ile181Leu
ENST00000691544.1:c.72-24178A>T	ENSP00000510710.1:n.72-24178A>T
ENST00000692883.1:c.318A>T
ENST00000693321.1:c.257A>T
ENST00000409792.4:c.2377A>T MANE Select	ENSP00000386759.3:p.Ile793Leu
ENST00000330022.11:c.1992A>T
ENST00000409792.3:c.2377A>T	ENSP00000386759.3:p.Ile793Leu
ENST00000412450.1:c.2245A>T	ENSP00000416401.1:p.Ile749Leu
ENST00000431180.5:c.1529A>T
ENST00000445387.5:c.1277A>T
NM_014159.6:c.2377A>T , LRG_775t1:c.2377A>T	NP_054878.5:p.Ile793Leu
XM_011533631.1:c.2455A>T	XP_011531933.1:p.Ile819Leu
XM_011533632.1:c.2401A>T	XP_011531934.1:p.Ile801Leu
XM_011533633.1:c.2455A>T	XP_011531935.1:p.Ile819Leu
XM_011533634.1:c.2245A>T	XP_011531936.1:p.Ile749Leu
XR_940418.1:n.2470A>T
XR_940419.1:n.2558A>T
XR_940420.1:n.2558A>T
NM_001349370.1:c.2245A>T	NP_001336299.1:p.Ile749Leu
NR_146158.1:n.2430A>T
XM_011533632.3:c.2401A>T	XP_011531934.1:p.Ile801Leu
XM_024453487.1:c.2245A>T	XP_024309255.1:p.Ile749Leu
XM_024453488.1:c.2245A>T	XP_024309256.1:p.Ile749Leu
XM_024453489.1:c.2245A>T	XP_024309257.1:p.Ile749Leu
XR_001740131.2:n.2430A>T
XR_002959510.1:n.2306A>T
XR_002959511.1:n.2306A>T
XR_002959512.1:n.2306A>T
XR_002959513.1:n.2306A>T
XR_002959514.1:n.2306A>T
XR_002959515.1:n.2306A>T
XR_002959516.1:n.2306A>T
XR_002959517.1:n.2306A>T
NM_001349370.2:c.2245A>T	NP_001336299.1:p.Ile749Leu
NR_146158.2:n.2566A>T
NM_001349370.3:c.2245A>T	NP_001336299.1:p.Ile749Leu
NM_014159.7:c.2377A>T MANE Select	NP_054878.5:p.Ile793Leu
NR_146158.3:n.2566A>T