Canonical Allele Identifier: CA352515618
Community Standard Title: NM_014159.7(SETD2):c.7021C>T (p.Pro2341Ser)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47046564G>A , CM000665.2:g.47046564G>A GRCh38
NC_000003.11:g.47088054G>A , CM000665.1:g.47088054G>A GRCh37
NC_000003.10:g.47063058G>A NCBI36
NG_032091.1:g.122414C>T , LRG_775:g.122414C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.7021C>T MANE Select NP_054878.5:p.Pro2341Ser
ENST00000409792.4:c.7021C>T MANE Select ENSP00000386759.3:p.Pro2341Ser
NM_001349370.1:c.6889C>T NP_001336299.1:p.Pro2297Ser
NM_001349370.2:c.6889C>T NP_001336299.1:p.Pro2297Ser
NM_001349370.3:c.6889C>T NP_001336299.1:p.Pro2297Ser
NM_014159.6:c.7021C>T , LRG_775t1:c.7021C>T NP_054878.5:p.Pro2341Ser
NR_146158.1:n.7242C>T
NR_146158.2:n.7378C>T
NR_146158.3:n.7378C>T
ENST00000330022.11:c.6841C>T
ENST00000409792.3:c.7021C>T ENSP00000386759.3:p.Pro2341Ser
ENST00000431180.5:c.6217C>T
ENST00000445387.5:c.5997C>T
ENST00000479832.1:n.464C>T
ENST00000638947.2:c.6889C>T ENSP00000491413.2:p.Pro2297Ser
ENST00000685005.1:c.6787C>T ENSP00000509568.1:p.Pro2263Ser
ENST00000685237.1:n.3830C>T
ENST00000685505.1:c.5345C>T
ENST00000686773.1:c.5184C>T
ENST00000686792.1:n.1243C>T
ENST00000686876.1:c.3737C>T
ENST00000687657.1:n.1240C>T
ENST00000688290.1:c.4860C>T
ENST00000690157.1:c.3374C>T
ENST00000690461.1:c.5185C>T ENSP00000509352.1:p.Pro1729Ser
ENST00000691544.1:c.2077C>T ENSP00000510710.1:p.Pro693Ser
ENST00000691902.1:c.2816C>T
ENST00000692362.1:n.2826C>T
ENST00000692883.1:c.5345C>T
ENST00000693321.1:c.5280C>T
ENST00000693738.1:n.2462C>T
XM_011533631.1:c.7099C>T XP_011531933.1:p.Pro2367Ser
XM_011533632.1:c.7045C>T XP_011531934.1:p.Pro2349Ser
XM_011533632.3:c.7045C>T XP_011531934.1:p.Pro2349Ser
XM_011533633.1:c.6964C>T XP_011531935.1:p.Pro2322Ser
XM_011533634.1:c.6889C>T XP_011531936.1:p.Pro2297Ser
XM_024453487.1:c.6754C>T XP_024309255.1:p.Pro2252Ser
XM_024453488.1:c.6589C>T XP_024309256.1:p.Pro2197Ser
XR_001740131.2:n.7057C>T
XR_002959510.1:n.6950C>T
XR_002959511.1:n.7233C>T
XR_002959512.1:n.7333C>T
XR_002959513.1:n.7167C>T
XR_002959515.1:n.7198C>T
XR_940418.1:n.7114C>T