Canonical Allele Identifier: CA352535248
Community Standard Title: NM_014159.7(SETD2):c.5660A>G (p.Asn1887Ser)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47084120T>C , CM000665.2:g.47084120T>C GRCh38
NC_000003.11:g.47125610T>C , CM000665.1:g.47125610T>C GRCh37
NC_000003.10:g.47100614T>C NCBI36
NG_032091.1:g.84858A>G , LRG_775:g.84858A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.5660A>G MANE Select NP_054878.5:p.Asn1887Ser
ENST00000409792.4:c.5660A>G MANE Select ENSP00000386759.3:p.Asn1887Ser
NM_001349370.1:c.5528A>G NP_001336299.1:p.Asn1843Ser
NM_001349370.2:c.5528A>G NP_001336299.1:p.Asn1843Ser
NM_001349370.3:c.5528A>G NP_001336299.1:p.Asn1843Ser
NM_014159.6:c.5660A>G , LRG_775t1:c.5660A>G NP_054878.5:p.Asn1887Ser
NR_146158.1:n.5713A>G
NR_146158.2:n.5849A>G
NR_146158.3:n.5849A>G
ENST00000330022.11:c.5480A>G
ENST00000409792.3:c.5660A>G ENSP00000386759.3:p.Asn1887Ser
ENST00000431180.5:c.4688A>G
ENST00000445387.5:c.4560A>G
ENST00000638947.1:c.1310A>G ENSP00000491413.1:p.Asn437Ser
ENST00000638947.2:c.5528A>G ENSP00000491413.2:p.Asn1843Ser
ENST00000685005.1:c.5426A>G ENSP00000509568.1:p.Asn1809Ser
ENST00000685237.1:n.2369A>G
ENST00000685399.1:c.3540A>G
ENST00000685505.1:c.3601A>G
ENST00000686773.1:c.3540A>G
ENST00000686876.1:c.2376A>G
ENST00000688290.1:c.3540A>G
ENST00000690157.1:c.2413+2075A>G
ENST00000690461.1:c.3824A>G ENSP00000509352.1:p.Asn1275Ser
ENST00000691544.1:c.716A>G ENSP00000510710.1:p.Asn239Ser
ENST00000691902.1:c.1856-17002A>G
ENST00000692362.1:n.1465A>G
ENST00000692883.1:c.3601A>G
ENST00000693321.1:c.3540A>G
ENST00000693738.1:n.767A>G
XM_011533631.1:c.5738A>G XP_011531933.1:p.Asn1913Ser
XM_011533632.1:c.5684A>G XP_011531934.1:p.Asn1895Ser
XM_011533632.3:c.5684A>G XP_011531934.1:p.Asn1895Ser
XM_011533633.1:c.5603A>G XP_011531935.1:p.Asn1868Ser
XM_011533634.1:c.5528A>G XP_011531936.1:p.Asn1843Ser
XM_024453487.1:c.5393A>G XP_024309255.1:p.Asn1798Ser
XM_024453488.1:c.5228A>G XP_024309256.1:p.Asn1743Ser
XR_001740131.2:n.5413A>G
XR_002959510.1:n.5589A>G
XR_002959511.1:n.5589A>G
XR_002959512.1:n.5589A>G
XR_002959513.1:n.5589A>G
XR_002959514.1:n.5589A>G
XR_002959515.1:n.5454A>G
XR_002959516.1:n.5491A>G
XR_002959517.1:n.5491A>G
XR_940418.1:n.5753A>G
XR_940419.1:n.5841A>G
XR_940420.1:n.5841A>G