Canonical Allele Identifier: CA2362754
Community Standard Title: NM_014159.7(SETD2):c.6169C>T (p.Pro2057Ser)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47062287G>A , CM000665.2:g.47062287G>A GRCh38
NC_000003.11:g.47103777G>A , CM000665.1:g.47103777G>A GRCh37
NC_000003.10:g.47078781G>A NCBI36
NG_032091.1:g.106691C>T , LRG_775:g.106691C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.6169C>T MANE Select NP_054878.5:p.Pro2057Ser
ENST00000409792.4:c.6169C>T MANE Select ENSP00000386759.3:p.Pro2057Ser
NM_001349370.1:c.6037C>T NP_001336299.1:p.Pro2013Ser
NM_001349370.2:c.6037C>T NP_001336299.1:p.Pro2013Ser
NM_001349370.3:c.6037C>T NP_001336299.1:p.Pro2013Ser
NM_014159.6:c.6169C>T , LRG_775t1:c.6169C>T NP_054878.5:p.Pro2057Ser
NR_146158.1:n.6390C>T
NR_146158.2:n.6526C>T
NR_146158.3:n.6526C>T
ENST00000330022.11:c.5989C>T
ENST00000409792.3:c.6169C>T ENSP00000386759.3:p.Pro2057Ser
ENST00000431180.5:c.5365C>T
ENST00000445387.5:c.5145C>T
ENST00000492397.1:n.619C>T
ENST00000638947.2:c.6037C>T ENSP00000491413.2:p.Pro2013Ser
ENST00000685005.1:c.5935C>T ENSP00000509568.1:p.Pro1979Ser
ENST00000685237.1:n.2978C>T
ENST00000685505.1:c.4493C>T
ENST00000686773.1:c.4332C>T
ENST00000686792.1:n.391C>T
ENST00000686876.1:c.2885C>T
ENST00000687657.1:n.388C>T
ENST00000688290.1:c.4132+4783C>T
ENST00000690157.1:c.2522C>T
ENST00000690461.1:c.4333C>T ENSP00000509352.1:p.Pro1445Ser
ENST00000691544.1:c.1225C>T ENSP00000510710.1:p.Pro409Ser
ENST00000691902.1:c.1964C>T
ENST00000692362.1:n.1974C>T
ENST00000692883.1:c.4493C>T
ENST00000693321.1:c.4334C>T
ENST00000693738.1:n.1610C>T
XM_011533631.1:c.6247C>T XP_011531933.1:p.Pro2083Ser
XM_011533632.1:c.6193C>T XP_011531934.1:p.Pro2065Ser
XM_011533632.3:c.6193C>T XP_011531934.1:p.Pro2065Ser
XM_011533633.1:c.6112C>T XP_011531935.1:p.Pro2038Ser
XM_011533634.1:c.6037C>T XP_011531936.1:p.Pro2013Ser
XM_024453487.1:c.5902C>T XP_024309255.1:p.Pro1968Ser
XM_024453488.1:c.5737C>T XP_024309256.1:p.Pro1913Ser
XR_001740131.2:n.6205C>T
XR_002959510.1:n.6098C>T
XR_002959511.1:n.6381C>T
XR_002959512.1:n.6481C>T
XR_002959513.1:n.6315C>T
XR_002959514.1:n.6174C>T
XR_002959515.1:n.6346C>T
XR_002959516.1:n.6000C>T
XR_002959517.1:n.6168C>T
XR_940418.1:n.6262C>T
XR_940419.1:n.6633C>T
XR_940420.1:n.6518C>T