Canonical Allele Identifier: CA352518567
Community Standard Title: NM_014159.7(SETD2):c.4124A>G (p.Asn1375Ser)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47120512T>C , CM000665.2:g.47120512T>C GRCh38
NC_000003.11:g.47162002T>C , CM000665.1:g.47162002T>C GRCh37
NC_000003.10:g.47137006T>C NCBI36
NG_032091.1:g.48466A>G , LRG_775:g.48466A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.4124A>G MANE Select NP_054878.5:p.Asn1375Ser
ENST00000409792.4:c.4124A>G MANE Select ENSP00000386759.3:p.Asn1375Ser
NM_001349370.1:c.3992A>G NP_001336299.1:p.Asn1331Ser
NM_001349370.2:c.3992A>G NP_001336299.1:p.Asn1331Ser
NM_001349370.3:c.3992A>G NP_001336299.1:p.Asn1331Ser
NM_014159.6:c.4124A>G , LRG_775t1:c.4124A>G NP_054878.5:p.Asn1375Ser
NR_146158.1:n.4177A>G
NR_146158.2:n.4313A>G
NR_146158.3:n.4313A>G
ENST00000330022.11:c.3739A>G
ENST00000409792.3:c.4124A>G ENSP00000386759.3:p.Asn1375Ser
ENST00000412450.1:c.3992A>G ENSP00000416401.1:p.Asn1331Ser
ENST00000431180.5:c.3276A>G
ENST00000445387.5:c.3024A>G
ENST00000638947.2:c.3992A>G ENSP00000491413.2:p.Asn1331Ser
ENST00000685005.1:c.4025A>G ENSP00000509568.1:p.Asn1342Ser
ENST00000685399.1:c.2004A>G
ENST00000685505.1:c.2065A>G
ENST00000686773.1:c.2004A>G
ENST00000686876.1:c.1140A>G
ENST00000688290.1:c.2004A>G
ENST00000690157.1:c.1140A>G
ENST00000690461.1:c.2288A>G ENSP00000509352.1:p.Asn763Ser
ENST00000691544.1:c.72-22431A>G ENSP00000510710.1:n.72-22431A>G
ENST00000691902.1:c.1140A>G
ENST00000692883.1:c.2065A>G
ENST00000693321.1:c.2004A>G
XM_011533631.1:c.4202A>G XP_011531933.1:p.Asn1401Ser
XM_011533632.1:c.4148A>G XP_011531934.1:p.Asn1383Ser
XM_011533632.3:c.4148A>G XP_011531934.1:p.Asn1383Ser
XM_011533633.1:c.4202A>G XP_011531935.1:p.Asn1401Ser
XM_011533634.1:c.3992A>G XP_011531936.1:p.Asn1331Ser
XM_024453487.1:c.3992A>G XP_024309255.1:p.Asn1331Ser
XM_024453488.1:c.3992A>G XP_024309256.1:p.Asn1331Ser
XM_024453489.1:c.3992A>G XP_024309257.1:p.Asn1331Ser
XR_001740131.2:n.4177A>G
XR_002959510.1:n.4053A>G
XR_002959511.1:n.4053A>G
XR_002959512.1:n.4053A>G
XR_002959513.1:n.4053A>G
XR_002959514.1:n.4053A>G
XR_002959515.1:n.4053A>G
XR_002959516.1:n.4053A>G
XR_002959517.1:n.4053A>G
XR_940418.1:n.4217A>G
XR_940419.1:n.4305A>G
XR_940420.1:n.4305A>G