Canonical Allele Identifier: CA2363587
Community Standard Title: NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122540T>C , CM000665.2:g.47122540T>C GRCh38
NC_000003.11:g.47164030T>C , CM000665.1:g.47164030T>C GRCh37
NC_000003.10:g.47139034T>C NCBI36
NG_032091.1:g.46438A>G , LRG_775:g.46438A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.2096A>G MANE Select NP_054878.5:p.Asp699Gly
ENST00000409792.4:c.2096A>G MANE Select ENSP00000386759.3:p.Asp699Gly
NM_001349370.1:c.1964A>G NP_001336299.1:p.Asp655Gly
NM_001349370.2:c.1964A>G NP_001336299.1:p.Asp655Gly
NM_001349370.3:c.1964A>G NP_001336299.1:p.Asp655Gly
NM_014159.6:c.2096A>G , LRG_775t1:c.2096A>G NP_054878.5:p.Asp699Gly
NR_146158.1:n.2149A>G
NR_146158.2:n.2285A>G
NR_146158.3:n.2285A>G
ENST00000330022.11:c.1711A>G
ENST00000409792.3:c.2096A>G ENSP00000386759.3:p.Asp699Gly
ENST00000412450.1:c.1964A>G ENSP00000416401.1:p.Asp655Gly
ENST00000431180.5:c.1248A>G
ENST00000445387.5:c.996A>G
ENST00000638947.2:c.1964A>G ENSP00000491413.2:p.Asp655Gly
ENST00000685005.1:c.1997A>G ENSP00000509568.1:p.Asp666Gly
ENST00000685505.1:c.37A>G
ENST00000690461.1:c.260A>G ENSP00000509352.1:p.Asp87Gly
ENST00000691544.1:c.72-24459A>G ENSP00000510710.1:n.72-24459A>G
ENST00000692883.1:c.37A>G
XM_011533631.1:c.2174A>G XP_011531933.1:p.Asp725Gly
XM_011533632.1:c.2120A>G XP_011531934.1:p.Asp707Gly
XM_011533632.3:c.2120A>G XP_011531934.1:p.Asp707Gly
XM_011533633.1:c.2174A>G XP_011531935.1:p.Asp725Gly
XM_011533634.1:c.1964A>G XP_011531936.1:p.Asp655Gly
XM_024453487.1:c.1964A>G XP_024309255.1:p.Asp655Gly
XM_024453488.1:c.1964A>G XP_024309256.1:p.Asp655Gly
XM_024453489.1:c.1964A>G XP_024309257.1:p.Asp655Gly
XR_001740131.2:n.2149A>G
XR_002959510.1:n.2025A>G
XR_002959511.1:n.2025A>G
XR_002959512.1:n.2025A>G
XR_002959513.1:n.2025A>G
XR_002959514.1:n.2025A>G
XR_002959515.1:n.2025A>G
XR_002959516.1:n.2025A>G
XR_002959517.1:n.2025A>G
XR_940418.1:n.2189A>G
XR_940419.1:n.2277A>G
XR_940420.1:n.2277A>G