Canonical Allele Identifier: CA2669652264
Community Standard Title: NM_001122681.2(SH3BP2):c.-4-1875T>G
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2818739T>G , CM000666.2:g.2818739T>G GRCh38
NC_000004.11:g.2820466T>G , CM000666.1:g.2820466T>G GRCh37
NC_000004.10:g.2790264T>G NCBI36
NG_011609.1:g.30717T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.-4-1875T>G MANE Select NP_001116153.1:n.-4-1875T>G
ENST00000503393.8:c.-4-1875T>G MANE Select ENSP00000422168.3:n.-4-1875T>G
NM_001122681.1:c.-4-1875T>G NP_001116153.1:n.-4-1875T>G
NM_001145855.1:c.81-1875T>G NP_001139327.1:n.81-1875T>G
NM_001145855.2:c.81-1875T>G NP_001139327.1:n.81-1875T>G
NM_001145856.1:c.167+349T>G NP_001139328.1:n.167+349T>G
NM_001145856.2:c.167+349T>G NP_001139328.1:n.167+349T>G
ENST00000435136.6:c.-4-1875T>G ENSP00000403231.2:n.-4-1875T>G
ENST00000435136.8:c.81-1875T>G ENSP00000403231.3:n.81-1875T>G
ENST00000442312.6:c.81-1875T>G ENSP00000388152.2:n.81-1875T>G
ENST00000452765.6:c.-4-1875T>G ENSP00000409746.2:n.-4-1875T>G
ENST00000502260.5:c.-4-1875T>G ENSP00000425537.1:n.-4-1875T>G
ENST00000503219.5:c.-4-1875T>G ENSP00000422796.1:n.-4-1875T>G
ENST00000503393.6:c.167+349T>G ENSP00000422168.2:n.167+349T>G
ENST00000504294.5:c.-4-1875T>G ENSP00000423275.1:n.-4-1875T>G
ENST00000508385.5:c.-4-1875T>G ENSP00000424917.1:n.-4-1875T>G
ENST00000509677.5:n.24T>G
ENST00000510074.5:n.105-1875T>G
ENST00000511185.5:n.178-1875T>G
ENST00000511237.5:n.105-1875T>G
ENST00000511663.5:n.52-1875T>G
ENST00000511747.5:c.-5+349T>G ENSP00000424846.1:n.-5+349T>G
ENST00000511747.6:c.167+349T>G ENSP00000424846.2:n.167+349T>G
ENST00000512014.5:c.-4-1875T>G ENSP00000424105.1:n.-4-1875T>G
ENST00000512131.5:n.68-1875T>G
ENST00000513020.5:c.-4-1875T>G ENSP00000424072.1:n.-4-1875T>G
ENST00000513095.5:c.-4-1875T>G ENSP00000423823.1:n.-4-1875T>G
XM_005247998.3:c.6-1875T>G XP_005248055.1:n.6-1875T>G
XM_005247999.3:c.-4-1875T>G XP_005248056.1:n.-4-1875T>G
XM_011513547.1:c.167+349T>G XP_011511849.1:n.167+349T>G
XM_011513549.1:c.-4-1875T>G XP_011511851.1:n.-4-1875T>G
XM_011513550.1:c.-4-1875T>G XP_011511852.1:n.-4-1875T>G
XM_011513553.1:c.-762-1875T>G XP_011511855.1:n.-762-1875T>G