Canonical Allele Identifier: CA352528120
Community Standard Title: NM_014159.7(SETD2):c.2032G>C (p.Gly678Arg)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122604C>G , CM000665.2:g.47122604C>G GRCh38
NC_000003.11:g.47164094C>G , CM000665.1:g.47164094C>G GRCh37
NC_000003.10:g.47139098C>G NCBI36
NG_032091.1:g.46374G>C , LRG_775:g.46374G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.2032G>C MANE Select NP_054878.5:p.Gly678Arg
ENST00000409792.4:c.2032G>C MANE Select ENSP00000386759.3:p.Gly678Arg
NM_001349370.1:c.1900G>C NP_001336299.1:p.Gly634Arg
NM_001349370.2:c.1900G>C NP_001336299.1:p.Gly634Arg
NM_001349370.3:c.1900G>C NP_001336299.1:p.Gly634Arg
NM_014159.6:c.2032G>C , LRG_775t1:c.2032G>C NP_054878.5:p.Gly678Arg
NR_146158.1:n.2085G>C
NR_146158.2:n.2221G>C
NR_146158.3:n.2221G>C
ENST00000330022.11:c.1647G>C
ENST00000409792.3:c.2032G>C ENSP00000386759.3:p.Gly678Arg
ENST00000412450.1:c.1900G>C ENSP00000416401.1:p.Gly634Arg
ENST00000431180.5:c.1184G>C
ENST00000445387.5:c.932G>C
ENST00000638947.2:c.1900G>C ENSP00000491413.2:p.Gly634Arg
ENST00000685005.1:c.1933G>C ENSP00000509568.1:p.Gly645Arg
ENST00000690461.1:c.196G>C ENSP00000509352.1:p.Gly66Arg
ENST00000691544.1:c.72-24523G>C ENSP00000510710.1:n.72-24523G>C
XM_011533631.1:c.2110G>C XP_011531933.1:p.Gly704Arg
XM_011533632.1:c.2056G>C XP_011531934.1:p.Gly686Arg
XM_011533632.3:c.2056G>C XP_011531934.1:p.Gly686Arg
XM_011533633.1:c.2110G>C XP_011531935.1:p.Gly704Arg
XM_011533634.1:c.1900G>C XP_011531936.1:p.Gly634Arg
XM_024453487.1:c.1900G>C XP_024309255.1:p.Gly634Arg
XM_024453488.1:c.1900G>C XP_024309256.1:p.Gly634Arg
XM_024453489.1:c.1900G>C XP_024309257.1:p.Gly634Arg
XR_001740131.2:n.2085G>C
XR_002959510.1:n.1961G>C
XR_002959511.1:n.1961G>C
XR_002959512.1:n.1961G>C
XR_002959513.1:n.1961G>C
XR_002959514.1:n.1961G>C
XR_002959515.1:n.1961G>C
XR_002959516.1:n.1961G>C
XR_002959517.1:n.1961G>C
XR_940418.1:n.2125G>C
XR_940419.1:n.2213G>C
XR_940420.1:n.2213G>C