Canonical Allele Identifier: CA388417363
Gene: MYCBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77278827G>A , CM000675.2:g.77278827G>A GRCh38
NC_000013.10:g.77852962G>A , CM000675.1:g.77852962G>A GRCh37
NC_000013.9:g.76750963G>A NCBI36
NG_053031.1:g.53216C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015057.5:c.679C>T MANE Select NP_055872.4:p.Gln227Ter
ENST00000544440.7:c.679C>T MANE Select ENSP00000444596.2:p.Gln227Ter
NM_015057.4:c.679C>T NP_055872.4:p.Gln227Ter
ENST00000357337.10:c.565C>T ENSP00000349892.5:p.Gln189Ter
ENST00000357337.11:c.679C>T ENSP00000349892.6:p.Gln227Ter
ENST00000544440.6:c.565C>T ENSP00000444596.1:p.Gln189Ter
ENST00000682321.1:c.679C>T ENSP00000508023.1:p.Gln227Ter
ENST00000683697.1:c.679C>T ENSP00000508153.1:p.Gln227Ter
ENST00000683823.1:c.679C>T ENSP00000507196.1:p.Gln227Ter
ENST00000684354.1:c.679C>T ENSP00000507330.1:p.Gln227Ter
ENST00000695079.1:c.679C>T ENSP00000511683.1:p.Gln227Ter
ENST00000695080.1:c.679C>T ENSP00000511684.1:p.Gln227Ter
ENST00000695081.1:c.679C>T ENSP00000511685.1:p.Gln227Ter
ENST00000695090.1:n.589C>T
ENST00000695091.1:n.425C>T
ENST00000695094.1:n.425C>T
ENST00000695095.1:n.692C>T
XM_005266299.1:c.679C>T XP_005266356.1:p.Gln227Ter
XM_005266299.3:c.679C>T XP_005266356.1:p.Gln227Ter
XM_006719779.1:c.679C>T XP_006719842.1:p.Gln227Ter
XM_006719779.3:c.679C>T XP_006719842.1:p.Gln227Ter
XM_006719780.1:c.679C>T XP_006719843.1:p.Gln227Ter
XM_006719780.3:c.679C>T XP_006719843.1:p.Gln227Ter
XM_006719781.1:c.679C>T XP_006719844.1:p.Gln227Ter
XM_006719781.3:c.679C>T XP_006719844.1:p.Gln227Ter
XM_006719782.1:c.679C>T XP_006719845.1:p.Gln227Ter
XM_006719782.3:c.679C>T XP_006719845.1:p.Gln227Ter
XM_006719783.1:c.679C>T XP_006719846.1:p.Gln227Ter
XM_006719783.3:c.679C>T XP_006719846.1:p.Gln227Ter
XM_006719784.1:c.679C>T XP_006719847.1:p.Gln227Ter
XM_006719784.3:c.679C>T XP_006719847.1:p.Gln227Ter
XM_006719785.1:c.679C>T XP_006719848.1:p.Gln227Ter
XM_006719785.3:c.679C>T XP_006719848.1:p.Gln227Ter
XM_006719786.1:c.679C>T XP_006719849.1:p.Gln227Ter
XM_006719786.3:c.679C>T XP_006719849.1:p.Gln227Ter
XM_006719787.1:c.679C>T XP_006719850.1:p.Gln227Ter
XM_006719787.3:c.679C>T XP_006719850.1:p.Gln227Ter
XM_006719788.1:c.679C>T XP_006719851.1:p.Gln227Ter
XM_006719788.3:c.679C>T XP_006719851.1:p.Gln227Ter
XM_006719789.1:c.679C>T XP_006719852.1:p.Gln227Ter
XM_006719789.3:c.679C>T XP_006719852.1:p.Gln227Ter
XM_011535003.1:c.478C>T XP_011533305.1:p.Gln160Ter
XM_011535004.1:c.352C>T XP_011533306.1:p.Gln118Ter
XM_011535004.2:c.352C>T XP_011533306.1:p.Gln118Ter
XM_017020454.2:c.679C>T XP_016875943.1:p.Gln227Ter
XM_017020455.2:c.679C>T XP_016875944.1:p.Gln227Ter
XM_017020456.2:c.679C>T XP_016875945.1:p.Gln227Ter
XM_017020457.2:c.679C>T XP_016875946.1:p.Gln227Ter
XM_017020458.2:c.679C>T XP_016875947.1:p.Gln227Ter
XM_017020459.2:c.679C>T XP_016875948.1:p.Gln227Ter
XM_017020460.2:c.679C>T XP_016875949.1:p.Gln227Ter
XM_017020461.2:c.679C>T XP_016875950.1:p.Gln227Ter
XM_017020462.2:c.679C>T XP_016875951.1:p.Gln227Ter
XM_017020463.2:c.679C>T XP_016875952.1:p.Gln227Ter
XM_017020464.2:c.679C>T XP_016875953.1:p.Gln227Ter
XM_017020465.2:c.679C>T XP_016875954.1:p.Gln227Ter
XM_017020466.2:c.679C>T XP_016875955.1:p.Gln227Ter
XM_017020467.2:c.679C>T XP_016875956.1:p.Gln227Ter
XM_017020468.1:c.-117C>T XP_016875957.1:n.-117C>T