Canonical Allele Identifier: CA2363807
Gene: SETD2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.47163906G>A
GRCh37 chr3:g.47205396G>A
gnomAD v2:
3:47205396 G / A
gnomAD v3:
3:47163906 G / A
gnomAD v4:
chr3-47163906-G-A
Joint Max Group AF 0.00181687 (AMR)
Genomes Max Group AF 0.00169471 (AMR)
Exomes Max Group AF 0.00161955 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47163906G>A , CM000665.2:g.47163906G>A GRCh38
NC_000003.11:g.47205396G>A , CM000665.1:g.47205396G>A GRCh37
NC_000003.10:g.47180400G>A NCBI36
NG_032091.1:g.5072C>T , LRG_775:g.5072C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691544.1:c.19C>T ENSP00000510710.1:p.Gln7Ter
ENST00000409792.4:c.19C>T MANE Select ENSP00000386759.3:p.Gln7Ter
ENST00000409792.3:c.19C>T ENSP00000386759.3:p.Gln7Ter
NM_014159.6:c.19C>T , LRG_775t1:c.19C>T NP_054878.5:p.Gln7Ter
XM_011533632.1:c.19C>T XP_011531934.1:p.Gln7Ter
NM_001349370.1:c.-98C>T NP_001336299.1:n.-98C>T
NR_146158.1:n.72C>T
XM_011533632.3:c.19C>T XP_011531934.1:p.Gln7Ter
XR_001740131.2:n.72C>T
NM_001349370.2:c.-98C>T NP_001336299.1:n.-98C>T
NR_146158.2:n.208C>T
NM_001349370.3:c.-98C>T NP_001336299.1:n.-98C>T
NM_014159.7:c.19C>T MANE Select NP_054878.5:p.Gln7Ter
NR_146158.3:n.208C>T
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