Canonical Allele Identifier: CA73812492

Gene: SETD2

Linked Data

• ClinVar Variation Id: 542232
• ClinVar RCV Id: RCV000652628 ; RCV004533419
• dbSNP Id: rs191985301
• gnomAD v2: 3-47165978-C-T
• gnomAD v3: 3-47124488-C-T
• gnomAD v4: 3-47124488-C-T
• MyVariant Identifiers: chr3:g.47165978C>T (hg19) ; chr3:g.47124488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47124488C>T , CM000665.2:g.47124488C>T	GRCh38
NC_000003.11:g.47165978C>T , CM000665.1:g.47165978C>T	GRCh37
NC_000003.10:g.47140982C>T	NCBI36
NG_032091.1:g.44490G>A , LRG_775:g.44490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.16G>A	ENSP00000491413.2:p.Ala6Thr
ENST00000685005.1:c.49G>A	ENSP00000509568.1:p.Ala17Thr
ENST00000691544.1:c.72-26407G>A	ENSP00000510710.1:n.72-26407G>A
ENST00000409792.4:c.148G>A MANE Select	ENSP00000386759.3:p.Ala50Thr
ENST00000409792.3:c.148G>A	ENSP00000386759.3:p.Ala50Thr
ENST00000412450.1:c.16G>A	ENSP00000416401.1:p.Ala6Thr
NM_014159.6:c.148G>A , LRG_775t1:c.148G>A	NP_054878.5:p.Ala50Thr
XM_011533631.1:c.226G>A	XP_011531933.1:p.Ala76Thr
XM_011533632.1:c.172G>A	XP_011531934.1:p.Ala58Thr
XM_011533633.1:c.226G>A	XP_011531935.1:p.Ala76Thr
XM_011533634.1:c.16G>A	XP_011531936.1:p.Ala6Thr
XR_940418.1:n.241G>A
XR_940419.1:n.329G>A
XR_940420.1:n.329G>A
NM_001349370.1:c.16G>A	NP_001336299.1:p.Ala6Thr
NR_146158.1:n.201G>A
XM_011533632.3:c.172G>A	XP_011531934.1:p.Ala58Thr
XM_024453487.1:c.16G>A	XP_024309255.1:p.Ala6Thr
XM_024453488.1:c.16G>A	XP_024309256.1:p.Ala6Thr
XM_024453489.1:c.16G>A	XP_024309257.1:p.Ala6Thr
XR_001740131.2:n.201G>A
XR_002959510.1:n.77G>A
XR_002959511.1:n.77G>A
XR_002959512.1:n.77G>A
XR_002959513.1:n.77G>A
XR_002959514.1:n.77G>A
XR_002959515.1:n.77G>A
XR_002959516.1:n.77G>A
XR_002959517.1:n.77G>A
NM_001349370.2:c.16G>A	NP_001336299.1:p.Ala6Thr
NR_146158.2:n.337G>A
NM_001349370.3:c.16G>A	NP_001336299.1:p.Ala6Thr
NM_014159.7:c.148G>A MANE Select	NP_054878.5:p.Ala50Thr
NR_146158.3:n.337G>A