Canonical Allele Identifier: CA352526438

Gene: SETD2

Linked Data

• dbSNP Id: rs2043123889
• MyVariant Identifiers: chr3:g.47163680C>G (hg19) ; chr3:g.47122190C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122190C>G , CM000665.2:g.47122190C>G	GRCh38
NC_000003.11:g.47163680C>G , CM000665.1:g.47163680C>G	GRCh37
NC_000003.10:g.47138684C>G	NCBI36
NG_032091.1:g.46788G>C , LRG_775:g.46788G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2314G>C	ENSP00000491413.2:p.Val772Leu
ENST00000685005.1:c.2347G>C	ENSP00000509568.1:p.Val783Leu
ENST00000685399.1:c.326G>C
ENST00000685505.1:c.387G>C
ENST00000686773.1:c.326G>C
ENST00000688290.1:c.326G>C
ENST00000690461.1:c.610G>C	ENSP00000509352.1:p.Val204Leu
ENST00000691544.1:c.72-24109G>C	ENSP00000510710.1:n.72-24109G>C
ENST00000692883.1:c.387G>C
ENST00000693321.1:c.326G>C
ENST00000409792.4:c.2446G>C MANE Select	ENSP00000386759.3:p.Val816Leu
ENST00000330022.11:c.2061G>C
ENST00000409792.3:c.2446G>C	ENSP00000386759.3:p.Val816Leu
ENST00000412450.1:c.2314G>C	ENSP00000416401.1:p.Val772Leu
ENST00000431180.5:c.1598G>C
ENST00000445387.5:c.1346G>C
NM_014159.6:c.2446G>C , LRG_775t1:c.2446G>C	NP_054878.5:p.Val816Leu
XM_011533631.1:c.2524G>C	XP_011531933.1:p.Val842Leu
XM_011533632.1:c.2470G>C	XP_011531934.1:p.Val824Leu
XM_011533633.1:c.2524G>C	XP_011531935.1:p.Val842Leu
XM_011533634.1:c.2314G>C	XP_011531936.1:p.Val772Leu
XR_940418.1:n.2539G>C
XR_940419.1:n.2627G>C
XR_940420.1:n.2627G>C
NM_001349370.1:c.2314G>C	NP_001336299.1:p.Val772Leu
NR_146158.1:n.2499G>C
XM_011533632.3:c.2470G>C	XP_011531934.1:p.Val824Leu
XM_024453487.1:c.2314G>C	XP_024309255.1:p.Val772Leu
XM_024453488.1:c.2314G>C	XP_024309256.1:p.Val772Leu
XM_024453489.1:c.2314G>C	XP_024309257.1:p.Val772Leu
XR_001740131.2:n.2499G>C
XR_002959510.1:n.2375G>C
XR_002959511.1:n.2375G>C
XR_002959512.1:n.2375G>C
XR_002959513.1:n.2375G>C
XR_002959514.1:n.2375G>C
XR_002959515.1:n.2375G>C
XR_002959516.1:n.2375G>C
XR_002959517.1:n.2375G>C
NM_001349370.2:c.2314G>C	NP_001336299.1:p.Val772Leu
NR_146158.2:n.2635G>C
NM_001349370.3:c.2314G>C	NP_001336299.1:p.Val772Leu
NM_014159.7:c.2446G>C MANE Select	NP_054878.5:p.Val816Leu
NR_146158.3:n.2635G>C