Canonical Allele Identifier: CA352512770
Community Standard Title: NM_014159.7(SETD2):c.7242G>C (p.Gln2414His)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47037774C>G , CM000665.2:g.47037774C>G GRCh38
NC_000003.11:g.47079264C>G , CM000665.1:g.47079264C>G GRCh37
NC_000003.10:g.47054268C>G NCBI36
NG_032091.1:g.131204G>C , LRG_775:g.131204G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.7242G>C MANE Select NP_054878.5:p.Gln2414His
ENST00000409792.4:c.7242G>C MANE Select ENSP00000386759.3:p.Gln2414His
NM_001349370.1:c.7110G>C NP_001336299.1:p.Gln2370His
NM_001349370.2:c.7110G>C NP_001336299.1:p.Gln2370His
NM_001349370.3:c.7110G>C NP_001336299.1:p.Gln2370His
NM_014159.6:c.7242G>C , LRG_775t1:c.7242G>C NP_054878.5:p.Gln2414His
NR_146158.1:n.7463G>C
NR_146158.2:n.7599G>C
NR_146158.3:n.7599G>C
ENST00000330022.11:c.7062G>C
ENST00000409792.3:c.7242G>C ENSP00000386759.3:p.Gln2414His
ENST00000431180.5:c.6438G>C
ENST00000445387.5:c.6218G>C
ENST00000479832.1:n.685G>C
ENST00000638947.2:c.7110G>C ENSP00000491413.2:p.Gln2370His
ENST00000685005.1:c.7008G>C ENSP00000509568.1:p.Gln2336His
ENST00000685237.1:n.4051G>C
ENST00000685505.1:c.5566G>C
ENST00000686773.1:c.5405G>C
ENST00000686792.1:n.1464G>C
ENST00000686876.1:c.3958G>C
ENST00000687657.1:n.1461G>C
ENST00000688290.1:c.5081G>C
ENST00000690157.1:c.3595G>C
ENST00000690461.1:c.5530G>C ENSP00000509352.1:n.5530G>C
ENST00000691544.1:c.2298G>C ENSP00000510710.1:p.Gln766His
ENST00000691902.1:c.3037G>C
ENST00000692362.1:n.3171G>C
ENST00000692883.1:c.5566G>C
ENST00000693321.1:c.5501G>C
ENST00000693738.1:n.2683G>C
XM_011533631.1:c.7320G>C XP_011531933.1:p.Gln2440His
XM_011533632.1:c.7266G>C XP_011531934.1:p.Gln2422His
XM_011533632.3:c.7266G>C XP_011531934.1:p.Gln2422His
XM_011533633.1:c.7185G>C XP_011531935.1:p.Gln2395His
XM_011533634.1:c.7110G>C XP_011531936.1:p.Gln2370His
XM_024453487.1:c.6975G>C XP_024309255.1:p.Gln2325His
XM_024453488.1:c.6810G>C XP_024309256.1:p.Gln2270His
XR_001740131.2:n.7278G>C
XR_002959510.1:n.7295G>C
XR_002959511.1:n.7454G>C
XR_002959512.1:n.7554G>C
XR_002959513.1:n.7388G>C
XR_002959515.1:n.7419G>C
XR_940418.1:n.7459G>C