Canonical Allele Identifier: CA2362844
Community Standard Title: NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)
Gene: SETD2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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