Canonical Allele Identifier: CA352533347
Community Standard Title: NM_014159.7(SETD2):c.5829C>A (p.Asn1943Lys)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47083951G>T , CM000665.2:g.47083951G>T GRCh38
NC_000003.11:g.47125441G>T , CM000665.1:g.47125441G>T GRCh37
NC_000003.10:g.47100445G>T NCBI36
NG_032091.1:g.85027C>A , LRG_775:g.85027C>A

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.5829C>A MANE Select NP_054878.5:p.Asn1943Lys
ENST00000409792.4:c.5829C>A MANE Select ENSP00000386759.3:p.Asn1943Lys
NM_001349370.1:c.5697C>A NP_001336299.1:p.Asn1899Lys
NM_001349370.2:c.5697C>A NP_001336299.1:p.Asn1899Lys
NM_001349370.3:c.5697C>A NP_001336299.1:p.Asn1899Lys
NM_014159.6:c.5829C>A , LRG_775t1:c.5829C>A NP_054878.5:p.Asn1943Lys
NR_146158.1:n.5882C>A
NR_146158.2:n.6018C>A
NR_146158.3:n.6018C>A
ENST00000330022.11:c.5649C>A
ENST00000409792.3:c.5829C>A ENSP00000386759.3:p.Asn1943Lys
ENST00000431180.5:c.4857C>A
ENST00000445387.5:c.4729C>A
ENST00000638947.1:c.1479C>A ENSP00000491413.1:p.Asn493Lys
ENST00000638947.2:c.5697C>A ENSP00000491413.2:p.Asn1899Lys
ENST00000685005.1:c.5595C>A ENSP00000509568.1:p.Asn1865Lys
ENST00000685237.1:n.2538C>A
ENST00000685399.1:c.3709C>A
ENST00000685505.1:c.3770C>A
ENST00000686773.1:c.3709C>A
ENST00000686876.1:c.2545C>A
ENST00000688290.1:c.3709C>A
ENST00000690157.1:c.2413+2244C>A
ENST00000690461.1:c.3993C>A ENSP00000509352.1:p.Asn1331Lys
ENST00000691544.1:c.885C>A ENSP00000510710.1:p.Asn295Lys
ENST00000691902.1:c.1856-16833C>A
ENST00000692362.1:n.1634C>A
ENST00000692883.1:c.3770C>A
ENST00000693321.1:c.3709C>A
ENST00000693738.1:n.936C>A
XM_011533631.1:c.5907C>A XP_011531933.1:p.Asn1969Lys
XM_011533632.1:c.5853C>A XP_011531934.1:p.Asn1951Lys
XM_011533632.3:c.5853C>A XP_011531934.1:p.Asn1951Lys
XM_011533633.1:c.5772C>A XP_011531935.1:p.Asn1924Lys
XM_011533634.1:c.5697C>A XP_011531936.1:p.Asn1899Lys
XM_024453487.1:c.5562C>A XP_024309255.1:p.Asn1854Lys
XM_024453488.1:c.5397C>A XP_024309256.1:p.Asn1799Lys
XR_001740131.2:n.5582C>A
XR_002959510.1:n.5758C>A
XR_002959511.1:n.5758C>A
XR_002959512.1:n.5758C>A
XR_002959513.1:n.5758C>A
XR_002959514.1:n.5758C>A
XR_002959515.1:n.5623C>A
XR_002959516.1:n.5660C>A
XR_002959517.1:n.5660C>A
XR_940418.1:n.5922C>A
XR_940419.1:n.6010C>A
XR_940420.1:n.6010C>A