Canonical Allele Identifier: CA352513058
Community Standard Title: NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47101476T>C , CM000665.2:g.47101476T>C GRCh38
NC_000003.11:g.47142966T>C , CM000665.1:g.47142966T>C GRCh37
NC_000003.10:g.47117970T>C NCBI36
NG_032091.1:g.67502A>G , LRG_775:g.67502A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.4997A>G MANE Select NP_054878.5:p.Tyr1666Cys
ENST00000409792.4:c.4997A>G MANE Select ENSP00000386759.3:p.Tyr1666Cys
NM_001349370.1:c.4865A>G NP_001336299.1:p.Tyr1622Cys
NM_001349370.2:c.4865A>G NP_001336299.1:p.Tyr1622Cys
NM_001349370.3:c.4865A>G NP_001336299.1:p.Tyr1622Cys
NM_014159.6:c.4997A>G , LRG_775t1:c.4997A>G NP_054878.5:p.Tyr1666Cys
NR_146158.1:n.5050A>G
NR_146158.2:n.5186A>G
NR_146158.3:n.5186A>G
ENST00000330022.11:c.4817A>G
ENST00000409792.3:c.4997A>G ENSP00000386759.3:p.Tyr1666Cys
ENST00000431180.5:c.4025A>G
ENST00000445387.5:c.3897A>G
ENST00000638947.1:c.647A>G ENSP00000491413.1:p.Tyr216Cys
ENST00000638947.2:c.4865A>G ENSP00000491413.2:p.Tyr1622Cys
ENST00000685005.1:c.4898A>G ENSP00000509568.1:p.Tyr1633Cys
ENST00000685399.1:c.2877A>G
ENST00000685505.1:c.2938A>G
ENST00000686773.1:c.2877A>G
ENST00000686876.1:c.1732-3395A>G
ENST00000688290.1:c.2877A>G
ENST00000690157.1:c.2013A>G
ENST00000690461.1:c.3161A>G ENSP00000509352.1:p.Tyr1054Cys
ENST00000691544.1:c.72-3395A>G ENSP00000510710.1:n.72-3395A>G
ENST00000691902.1:c.1855+4521A>G
ENST00000692362.1:n.802A>G
ENST00000692883.1:c.2938A>G
ENST00000693321.1:c.2877A>G
XM_011533631.1:c.5075A>G XP_011531933.1:p.Tyr1692Cys
XM_011533632.1:c.5021A>G XP_011531934.1:p.Tyr1674Cys
XM_011533632.3:c.5021A>G XP_011531934.1:p.Tyr1674Cys
XM_011533633.1:c.5075A>G XP_011531935.1:p.Tyr1692Cys
XM_011533634.1:c.4865A>G XP_011531936.1:p.Tyr1622Cys
XM_024453487.1:c.4865A>G XP_024309255.1:p.Tyr1622Cys
XM_024453488.1:c.4584-3395A>G XP_024309256.1:n.4584-3395A>G
XM_024453489.1:c.4785+1870A>G XP_024309257.1:n.4785+1870A>G
XR_001740131.2:n.4769-3395A>G
XR_002959510.1:n.4926A>G
XR_002959511.1:n.4926A>G
XR_002959512.1:n.4926A>G
XR_002959513.1:n.4926A>G
XR_002959514.1:n.4926A>G
XR_002959515.1:n.4926A>G
XR_002959516.1:n.4846+1870A>G
XR_002959517.1:n.4846+1870A>G
XR_940418.1:n.5090A>G
XR_940419.1:n.5178A>G
XR_940420.1:n.5178A>G