Canonical Allele Identifier: CA2509459198
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635215_71635216insAGTGAGTCAAAATGCATT , CM000667.2:g.71635215_71635216insAGTGAGTCAAAATGCATT GRCh38
NC_000005.9:g.70931042_70931043insAGTGAGTCAAAATGCATT , CM000667.1:g.70931042_70931043insAGTGAGTCAAAATGCATT GRCh37
NC_000005.8:g.70966798_70966799insAGTGAGTCAAAATGCATT NCBI36
NG_008882.1:g.52928_52929insAGTGAGTCAAAATGCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.924_925insAGTGAGTCAAAATGCATT
ENST00000505787.8:n.2808_2809insAGTGAGTCAAAATGCATT
ENST00000509358.7:c.968_969insAGTGAGTCAAAATGCATT ENSP00000420994.3:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000509539.3:c.230_231insAGTGAGTCAAAATGCATT ENSP00000425474.3:p.Ala77_Asn78insValSerGlnAsnAlaPhe
ENST00000510895.7:n.1091_1092insAGTGAGTCAAAATGCATT
ENST00000629193.3:c.854_855insAGTGAGTCAAAATGCATT ENSP00000486535.2:p.Ala285_Asn286insValSerGlnAsnAlaPhe
ENST00000681968.1:c.461_462insAGTGAGTCAAAATGCATT ENSP00000508143.1:p.Ala154_Asn155insValSerGlnAsnAlaPhe
ENST00000682045.1:c.824_825insAGTGAGTCAAAATGCATT ENSP00000507329.1:p.Ala275_Asn276insValSerGlnAsnAlaPhe
ENST00000682214.1:c.575_576insAGTGAGTCAAAATGCATT ENSP00000507336.1:p.Ala192_Asn193insValSerGlnAsnAlaPhe
ENST00000682499.1:n.1789_1790insAGTGAGTCAAAATGCATT
ENST00000682541.1:c.968_969insAGTGAGTCAAAATGCATT ENSP00000507673.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000682687.1:c.968_969insAGTGAGTCAAAATGCATT ENSP00000507945.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000682727.1:c.968_969insAGTGAGTCAAAATGCATT ENSP00000507393.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000682876.1:c.1097_1098insAGTGAGTCAAAATGCATT ENSP00000508389.1:p.Ala366_Asn367insValSerGlnAsnAlaPhe
ENST00000683098.1:c.803+3030_803+3031insAGTGAGTCAAAATGCATT ENSP00000507670.1:n.803+3030_803+3031insAGTGAGTCAAAATGCATT
ENST00000683258.1:c.*689_*690insAGTGAGTCAAAATGCATT ENSP00000507448.1:n.*689_*690insAGTGAGTCAAAATGCATT
ENST00000683339.1:c.752_753insAGTGAGTCAAAATGCATT ENSP00000507758.1:p.Ala251_Asn252insValSerGlnAsnAlaPhe
ENST00000683403.1:c.878_879insAGTGAGTCAAAATGCATT ENSP00000507896.1:p.Ala293_Asn294insValSerGlnAsnAlaPhe
ENST00000683429.1:c.575_576insAGTGAGTCAAAATGCATT ENSP00000507697.1:p.Ala192_Asn193insValSerGlnAsnAlaPhe
ENST00000683665.1:c.968_969insAGTGAGTCAAAATGCATT ENSP00000507068.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000683789.1:c.854_855insAGTGAGTCAAAATGCATT ENSP00000507012.1:p.Ala285_Asn286insValSerGlnAsnAlaPhe
ENST00000683847.1:n.812_813insAGTGAGTCAAAATGCATT
ENST00000683882.1:c.968_969insAGTGAGTCAAAATGCATT ENSP00000506735.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000684024.1:c.*639_*640insAGTGAGTCAAAATGCATT ENSP00000507175.1:n.*639_*640insAGTGAGTCAAAATGCATT
ENST00000684254.1:c.*694_*695insAGTGAGTCAAAATGCATT ENSP00000508001.1:n.*694_*695insAGTGAGTCAAAATGCATT
ENST00000684310.1:c.165+173_165+174insAGTGAGTCAAAATGCATT ENSP00000507550.1:n.165+173_165+174insAGTGAGTCAAAATGCATT
ENST00000684530.1:c.230_231insAGTGAGTCAAAATGCATT ENSP00000507439.1:p.Ala77_Asn78insValSerGlnAsnAlaPhe
ENST00000684652.1:n.1970_1971insAGTGAGTCAAAATGCATT
ENST00000340941.11:c.968_969insAGTGAGTCAAAATGCATT MANE Select ENSP00000343657.6:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000340941.10:c.968_969insAGTGAGTCAAAATGCATT ENSP00000343657.6:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000505435.3:n.319_320insAGTGAGTCAAAATGCATT
ENST00000509358.6:c.968_969insAGTGAGTCAAAATGCATT ENSP00000420994.2:p.Ala323_Asn324insValSerGlnAsnAlaPhe
ENST00000509539.2:c.293_294insAGTGAGTCAAAATGCATT ENSP00000425474.2:p.Ala98_Asn99insValSerGlnAsnAlaPhe
ENST00000510895.6:n.582_583insAGTGAGTCAAAATGCATT
ENST00000512218.6:c.854_855insAGTGAGTCAAAATGCATT ENSP00000423202.2:p.Ala285_Asn286insValSerGlnAsnAlaPhe
ENST00000629193.2:c.854_855insAGTGAGTCAAAATGCATT ENSP00000486535.1:p.Ala285_Asn286insValSerGlnAsnAlaPhe
NM_022132.4:c.968_969insAGTGAGTCAAAATGCATT NP_071415.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
XM_005248567.1:c.854_855insAGTGAGTCAAAATGCATT XP_005248624.1:p.Ala285_Asn286insValSerGlnAsnAlaPhe
XM_011543528.1:c.968_969insAGTGAGTCAAAATGCATT XP_011541830.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
XM_011543529.1:c.968_969insAGTGAGTCAAAATGCATT XP_011541831.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
NM_001363147.1:c.854_855insAGTGAGTCAAAATGCATT NP_001350076.1:p.Ala285_Asn286insValSerGlnAsnAlaPhe
XM_011543529.2:c.968_969insAGTGAGTCAAAATGCATT XP_011541831.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
XM_017009688.1:c.968_969insAGTGAGTCAAAATGCATT XP_016865177.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe
XR_001742172.1:n.1008_1009insAGTGAGTCAAAATGCATT
NM_022132.5:c.968_969insAGTGAGTCAAAATGCATT MANE Select NP_071415.1:p.Ala323_Asn324insValSerGlnAsnAlaPhe