Canonical Allele Identifier: CA394111799

Linked Data

dbSNP Id: rs762574295
gnomAD v3: 16-681352-T-G
gnomAD v4: 16-681352-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681352T>G , CM000678.2:g.681352T>G GRCh38
NC_000016.9:g.731352T>G , CM000678.1:g.731352T>G GRCh37
NC_000016.8:g.671353T>G NCBI36
NG_034141.1:g.6242T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.358+2T>G (STUB1) MANE Select ENSP00000219548.4:n.358+2T>G
ENST00000219548.8:c.358+2T>G (STUB1) ENSP00000219548.4:n.358+2T>G
ENST00000563505.5:n.454+2T>G (STUB1)
ENST00000564370.5:c.142+2T>G (STUB1) ENSP00000456875.1:n.142+2T>G
ENST00000565677.5:c.142+2T>G (STUB1) ENSP00000457228.1:n.142+2T>G
ENST00000566181.2:n.127+2T>G (STUB1)
ENST00000566408.5:c.75+2T>G (STUB1)
ENST00000567173.5:c.301+2T>G (STUB1) ENSP00000456591.1:n.301+2T>G
ENST00000567790.1:n.390T>G (STUB1)
ENST00000569248.5:n.932+2T>G (STUB1)
ENST00000620831.4:c.-50+38049T>G (MSLN) ENSP00000482893.1:n.-50+38049T>G
NM_001293197.1:c.142+2T>G (STUB1) NP_001280126.1:n.142+2T>G
NM_005861.3:c.358+2T>G (STUB1) NP_005852.2:n.358+2T>G
NM_005861.4:c.358+2T>G (STUB1) MANE Select NP_005852.2:n.358+2T>G
NM_001293197.2:c.142+2T>G (STUB1) NP_001280126.1:n.142+2T>G