Canonical Allele Identifier: CA352526665

Gene: SETD2

Linked Data

• gnomAD v4: 3-47122258-A-G
• MyVariant Identifiers: chr3:g.47163748A>G (hg19) ; chr3:g.47122258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122258A>G , CM000665.2:g.47122258A>G	GRCh38
NC_000003.11:g.47163748A>G , CM000665.1:g.47163748A>G	GRCh37
NC_000003.10:g.47138752A>G	NCBI36
NG_032091.1:g.46720T>C , LRG_775:g.46720T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2246T>C	ENSP00000491413.2:p.Ile749Thr
ENST00000685005.1:c.2279T>C	ENSP00000509568.1:p.Ile760Thr
ENST00000685399.1:c.258T>C
ENST00000685505.1:c.319T>C
ENST00000686773.1:c.258T>C
ENST00000688290.1:c.258T>C
ENST00000690461.1:c.542T>C	ENSP00000509352.1:p.Ile181Thr
ENST00000691544.1:c.72-24177T>C	ENSP00000510710.1:n.72-24177T>C
ENST00000692883.1:c.319T>C
ENST00000693321.1:c.258T>C
ENST00000409792.4:c.2378T>C MANE Select	ENSP00000386759.3:p.Ile793Thr
ENST00000330022.11:c.1993T>C
ENST00000409792.3:c.2378T>C	ENSP00000386759.3:p.Ile793Thr
ENST00000412450.1:c.2246T>C	ENSP00000416401.1:p.Ile749Thr
ENST00000431180.5:c.1530T>C
ENST00000445387.5:c.1278T>C
NM_014159.6:c.2378T>C , LRG_775t1:c.2378T>C	NP_054878.5:p.Ile793Thr
XM_011533631.1:c.2456T>C	XP_011531933.1:p.Ile819Thr
XM_011533632.1:c.2402T>C	XP_011531934.1:p.Ile801Thr
XM_011533633.1:c.2456T>C	XP_011531935.1:p.Ile819Thr
XM_011533634.1:c.2246T>C	XP_011531936.1:p.Ile749Thr
XR_940418.1:n.2471T>C
XR_940419.1:n.2559T>C
XR_940420.1:n.2559T>C
NM_001349370.1:c.2246T>C	NP_001336299.1:p.Ile749Thr
NR_146158.1:n.2431T>C
XM_011533632.3:c.2402T>C	XP_011531934.1:p.Ile801Thr
XM_024453487.1:c.2246T>C	XP_024309255.1:p.Ile749Thr
XM_024453488.1:c.2246T>C	XP_024309256.1:p.Ile749Thr
XM_024453489.1:c.2246T>C	XP_024309257.1:p.Ile749Thr
XR_001740131.2:n.2431T>C
XR_002959510.1:n.2307T>C
XR_002959511.1:n.2307T>C
XR_002959512.1:n.2307T>C
XR_002959513.1:n.2307T>C
XR_002959514.1:n.2307T>C
XR_002959515.1:n.2307T>C
XR_002959516.1:n.2307T>C
XR_002959517.1:n.2307T>C
NM_001349370.2:c.2246T>C	NP_001336299.1:p.Ile749Thr
NR_146158.2:n.2567T>C
NM_001349370.3:c.2246T>C	NP_001336299.1:p.Ile749Thr
NM_014159.7:c.2378T>C MANE Select	NP_054878.5:p.Ile793Thr
NR_146158.3:n.2567T>C