Canonical Allele Identifier: CA1554387702
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71634964_71634965delinsCT , CM000667.2:g.71634964_71634965delinsCT GRCh38
NC_000005.9:g.70930791_70930792delinsCT , CM000667.1:g.70930791_70930792delinsCT GRCh37
NC_000005.8:g.70966547_70966548delinsCT NCBI36
NG_008882.1:g.52677_52678delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.781_782delinsCT
ENST00000505787.8:n.2665_2666delinsCT
ENST00000509358.7:c.825_826delinsCT ENSP00000420994.3:p.His275=
ENST00000509539.3:c.87_88delinsCT ENSP00000425474.3:p.His29=
ENST00000510895.7:n.948_949delinsCT
ENST00000629193.3:c.711_712delinsCT ENSP00000486535.2:p.His237=
ENST00000681968.1:c.318_319delinsCT ENSP00000508143.1:p.His106=
ENST00000682045.1:c.681_682delinsCT ENSP00000507329.1:p.His227=
ENST00000682214.1:c.432_433delinsCT ENSP00000507336.1:p.His144=
ENST00000682499.1:n.1646_1647delinsCT
ENST00000682541.1:c.825_826delinsCT ENSP00000507673.1:p.His275=
ENST00000682687.1:c.825_826delinsCT ENSP00000507945.1:p.His275=
ENST00000682727.1:c.825_826delinsCT ENSP00000507393.1:p.His275=
ENST00000682876.1:c.954_955delinsCT ENSP00000508389.1:p.His318=
ENST00000683098.1:c.803+2779_803+2780delinsCT ENSP00000507670.1:n.803+2779_803+2780delinsCT
ENST00000683258.1:c.*546_*547delinsCT ENSP00000507448.1:n.*546_*547delinsCT
ENST00000683339.1:c.609_610delinsCT ENSP00000507758.1:p.His203=
ENST00000683403.1:c.813+12_813+13delinsCT ENSP00000507896.1:n.813+12_813+13delinsCT
ENST00000683429.1:c.432_433delinsCT ENSP00000507697.1:p.His144=
ENST00000683665.1:c.825_826delinsCT ENSP00000507068.1:p.His275=
ENST00000683789.1:c.711_712delinsCT ENSP00000507012.1:p.His237=
ENST00000683847.1:n.669_670delinsCT
ENST00000683882.1:c.825_826delinsCT ENSP00000506735.1:p.His275=
ENST00000684024.1:c.*496_*497delinsCT ENSP00000507175.1:n.*496_*497delinsCT
ENST00000684254.1:c.*551_*552delinsCT ENSP00000508001.1:n.*551_*552delinsCT
ENST00000684310.1:c.87_88delinsCT ENSP00000507550.1:p.His29=
ENST00000684530.1:c.87_88delinsCT ENSP00000507439.1:p.His29=
ENST00000684652.1:n.1827_1828delinsCT
ENST00000340941.11:c.825_826delinsCT MANE Select ENSP00000343657.6:p.His275=
ENST00000340941.10:c.825_826delinsCT ENSP00000343657.6:p.His275=
ENST00000505435.3:n.176_177delinsCT
ENST00000505787.7:n.639_640delinsCT
ENST00000509358.6:c.825_826delinsCT ENSP00000420994.2:p.His275=
ENST00000509539.2:c.150_151delinsCT ENSP00000425474.2:p.His50=
ENST00000510895.6:n.439_440delinsCT
ENST00000512218.6:c.711_712delinsCT ENSP00000423202.2:p.His237=
ENST00000629193.2:c.711_712delinsCT ENSP00000486535.1:p.His237=
NM_022132.4:c.825_826delinsCT NP_071415.1:p.His275=
XM_005248567.1:c.711_712delinsCT XP_005248624.1:p.His237=
XM_011543528.1:c.825_826delinsCT XP_011541830.1:p.His275=
XM_011543529.1:c.825_826delinsCT XP_011541831.1:p.His275=
NM_001363147.1:c.711_712delinsCT NP_001350076.1:p.His237=
XM_011543529.2:c.825_826delinsCT XP_011541831.1:p.His275=
XM_017009688.1:c.825_826delinsCT XP_016865177.1:p.His275=
XR_001742172.1:n.865_866delinsCT
NM_022132.5:c.825_826delinsCT MANE Select NP_071415.1:p.His275=