Canonical Allele Identifier: CA352526428

Gene: SETD2

Linked Data

• gnomAD v4: 3-47122187-T-A
• MyVariant Identifiers: chr3:g.47163677T>A (hg19) ; chr3:g.47122187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122187T>A , CM000665.2:g.47122187T>A	GRCh38
NC_000003.11:g.47163677T>A , CM000665.1:g.47163677T>A	GRCh37
NC_000003.10:g.47138681T>A	NCBI36
NG_032091.1:g.46791A>T , LRG_775:g.46791A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2317A>T	ENSP00000491413.2:p.Met773Leu
ENST00000685005.1:c.2350A>T	ENSP00000509568.1:p.Met784Leu
ENST00000685399.1:c.329A>T
ENST00000685505.1:c.390A>T
ENST00000686773.1:c.329A>T
ENST00000688290.1:c.329A>T
ENST00000690461.1:c.613A>T	ENSP00000509352.1:p.Met205Leu
ENST00000691544.1:c.72-24106A>T	ENSP00000510710.1:n.72-24106A>T
ENST00000692883.1:c.390A>T
ENST00000693321.1:c.329A>T
ENST00000409792.4:c.2449A>T MANE Select	ENSP00000386759.3:p.Met817Leu
ENST00000330022.11:c.2064A>T
ENST00000409792.3:c.2449A>T	ENSP00000386759.3:p.Met817Leu
ENST00000412450.1:c.2317A>T	ENSP00000416401.1:p.Met773Leu
ENST00000431180.5:c.1601A>T
ENST00000445387.5:c.1349A>T
NM_014159.6:c.2449A>T , LRG_775t1:c.2449A>T	NP_054878.5:p.Met817Leu
XM_011533631.1:c.2527A>T	XP_011531933.1:p.Met843Leu
XM_011533632.1:c.2473A>T	XP_011531934.1:p.Met825Leu
XM_011533633.1:c.2527A>T	XP_011531935.1:p.Met843Leu
XM_011533634.1:c.2317A>T	XP_011531936.1:p.Met773Leu
XR_940418.1:n.2542A>T
XR_940419.1:n.2630A>T
XR_940420.1:n.2630A>T
NM_001349370.1:c.2317A>T	NP_001336299.1:p.Met773Leu
NR_146158.1:n.2502A>T
XM_011533632.3:c.2473A>T	XP_011531934.1:p.Met825Leu
XM_024453487.1:c.2317A>T	XP_024309255.1:p.Met773Leu
XM_024453488.1:c.2317A>T	XP_024309256.1:p.Met773Leu
XM_024453489.1:c.2317A>T	XP_024309257.1:p.Met773Leu
XR_001740131.2:n.2502A>T
XR_002959510.1:n.2378A>T
XR_002959511.1:n.2378A>T
XR_002959512.1:n.2378A>T
XR_002959513.1:n.2378A>T
XR_002959514.1:n.2378A>T
XR_002959515.1:n.2378A>T
XR_002959516.1:n.2378A>T
XR_002959517.1:n.2378A>T
NM_001349370.2:c.2317A>T	NP_001336299.1:p.Met773Leu
NR_146158.2:n.2638A>T
NM_001349370.3:c.2317A>T	NP_001336299.1:p.Met773Leu
NM_014159.7:c.2449A>T MANE Select	NP_054878.5:p.Met817Leu
NR_146158.3:n.2638A>T