Canonical Allele Identifier: CA2363540
Community Standard Title: NM_014159.7(SETD2):c.2395G>A (p.Asp799Asn)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122241C>T , CM000665.2:g.47122241C>T GRCh38
NC_000003.11:g.47163731C>T , CM000665.1:g.47163731C>T GRCh37
NC_000003.10:g.47138735C>T NCBI36
NG_032091.1:g.46737G>A , LRG_775:g.46737G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.2395G>A MANE Select NP_054878.5:p.Asp799Asn
ENST00000409792.4:c.2395G>A MANE Select ENSP00000386759.3:p.Asp799Asn
NM_001349370.1:c.2263G>A NP_001336299.1:p.Asp755Asn
NM_001349370.2:c.2263G>A NP_001336299.1:p.Asp755Asn
NM_001349370.3:c.2263G>A NP_001336299.1:p.Asp755Asn
NM_014159.6:c.2395G>A , LRG_775t1:c.2395G>A NP_054878.5:p.Asp799Asn
NR_146158.1:n.2448G>A
NR_146158.2:n.2584G>A
NR_146158.3:n.2584G>A
ENST00000330022.11:c.2010G>A
ENST00000409792.3:c.2395G>A ENSP00000386759.3:p.Asp799Asn
ENST00000412450.1:c.2263G>A ENSP00000416401.1:p.Asp755Asn
ENST00000431180.5:c.1547G>A
ENST00000445387.5:c.1295G>A
ENST00000638947.2:c.2263G>A ENSP00000491413.2:p.Asp755Asn
ENST00000685005.1:c.2296G>A ENSP00000509568.1:p.Asp766Asn
ENST00000685399.1:c.275G>A
ENST00000685505.1:c.336G>A
ENST00000686773.1:c.275G>A
ENST00000688290.1:c.275G>A
ENST00000690461.1:c.559G>A ENSP00000509352.1:p.Asp187Asn
ENST00000691544.1:c.72-24160G>A ENSP00000510710.1:n.72-24160G>A
ENST00000692883.1:c.336G>A
ENST00000693321.1:c.275G>A
XM_011533631.1:c.2473G>A XP_011531933.1:p.Asp825Asn
XM_011533632.1:c.2419G>A XP_011531934.1:p.Asp807Asn
XM_011533632.3:c.2419G>A XP_011531934.1:p.Asp807Asn
XM_011533633.1:c.2473G>A XP_011531935.1:p.Asp825Asn
XM_011533634.1:c.2263G>A XP_011531936.1:p.Asp755Asn
XM_024453487.1:c.2263G>A XP_024309255.1:p.Asp755Asn
XM_024453488.1:c.2263G>A XP_024309256.1:p.Asp755Asn
XM_024453489.1:c.2263G>A XP_024309257.1:p.Asp755Asn
XR_001740131.2:n.2448G>A
XR_002959510.1:n.2324G>A
XR_002959511.1:n.2324G>A
XR_002959512.1:n.2324G>A
XR_002959513.1:n.2324G>A
XR_002959514.1:n.2324G>A
XR_002959515.1:n.2324G>A
XR_002959516.1:n.2324G>A
XR_002959517.1:n.2324G>A
XR_940418.1:n.2488G>A
XR_940419.1:n.2576G>A
XR_940420.1:n.2576G>A