Canonical Allele Identifier: CA352534655
Community Standard Title: NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47084067C>T , CM000665.2:g.47084067C>T GRCh38
NC_000003.11:g.47125557C>T , CM000665.1:g.47125557C>T GRCh37
NC_000003.10:g.47100561C>T NCBI36
NG_032091.1:g.84911G>A , LRG_775:g.84911G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.5713G>A MANE Select NP_054878.5:p.Gly1905Ser
ENST00000409792.4:c.5713G>A MANE Select ENSP00000386759.3:p.Gly1905Ser
NM_001349370.1:c.5581G>A NP_001336299.1:p.Gly1861Ser
NM_001349370.2:c.5581G>A NP_001336299.1:p.Gly1861Ser
NM_001349370.3:c.5581G>A NP_001336299.1:p.Gly1861Ser
NM_014159.6:c.5713G>A , LRG_775t1:c.5713G>A NP_054878.5:p.Gly1905Ser
NR_146158.1:n.5766G>A
NR_146158.2:n.5902G>A
NR_146158.3:n.5902G>A
ENST00000330022.11:c.5533G>A
ENST00000409792.3:c.5713G>A ENSP00000386759.3:p.Gly1905Ser
ENST00000431180.5:c.4741G>A
ENST00000445387.5:c.4613G>A
ENST00000638947.1:c.1363G>A ENSP00000491413.1:p.Gly455Ser
ENST00000638947.2:c.5581G>A ENSP00000491413.2:p.Gly1861Ser
ENST00000685005.1:c.5479G>A ENSP00000509568.1:p.Gly1827Ser
ENST00000685237.1:n.2422G>A
ENST00000685399.1:c.3593G>A
ENST00000685505.1:c.3654G>A
ENST00000686773.1:c.3593G>A
ENST00000686876.1:c.2429G>A
ENST00000688290.1:c.3593G>A
ENST00000690157.1:c.2413+2128G>A
ENST00000690461.1:c.3877G>A ENSP00000509352.1:p.Gly1293Ser
ENST00000691544.1:c.769G>A ENSP00000510710.1:p.Gly257Ser
ENST00000691902.1:c.1856-16949G>A
ENST00000692362.1:n.1518G>A
ENST00000692883.1:c.3654G>A
ENST00000693321.1:c.3593G>A
ENST00000693738.1:n.820G>A
XM_011533631.1:c.5791G>A XP_011531933.1:p.Gly1931Ser
XM_011533632.1:c.5737G>A XP_011531934.1:p.Gly1913Ser
XM_011533632.3:c.5737G>A XP_011531934.1:p.Gly1913Ser
XM_011533633.1:c.5656G>A XP_011531935.1:p.Gly1886Ser
XM_011533634.1:c.5581G>A XP_011531936.1:p.Gly1861Ser
XM_024453487.1:c.5446G>A XP_024309255.1:p.Gly1816Ser
XM_024453488.1:c.5281G>A XP_024309256.1:p.Gly1761Ser
XR_001740131.2:n.5466G>A
XR_002959510.1:n.5642G>A
XR_002959511.1:n.5642G>A
XR_002959512.1:n.5642G>A
XR_002959513.1:n.5642G>A
XR_002959514.1:n.5642G>A
XR_002959515.1:n.5507G>A
XR_002959516.1:n.5544G>A
XR_002959517.1:n.5544G>A
XR_940418.1:n.5806G>A
XR_940419.1:n.5894G>A
XR_940420.1:n.5894G>A