Canonical Allele Identifier: CA2695204573

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635172del , CM000667.2:g.71635172del	GRCh38
NC_000005.9:g.70930999del , CM000667.1:g.70930999del	GRCh37
NC_000005.8:g.70966755del	NCBI36
NG_008882.1:g.52885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.881del
ENST00000505787.8:n.2765del
ENST00000509358.7:c.925del	ENSP00000420994.3:p.Glu309SerfsTer12
ENST00000509539.3:c.187del	ENSP00000425474.3:p.Glu63SerfsTer12
ENST00000510895.7:n.1048del
ENST00000629193.3:c.811del	ENSP00000486535.2:p.Glu271SerfsTer12
ENST00000681968.1:c.418del	ENSP00000508143.1:p.Glu140SerfsTer12
ENST00000682045.1:c.781del	ENSP00000507329.1:p.Glu261SerfsTer12
ENST00000682214.1:c.532del	ENSP00000507336.1:p.Glu178SerfsTer12
ENST00000682499.1:n.1746del
ENST00000682541.1:c.925del	ENSP00000507673.1:p.Glu309SerfsTer12
ENST00000682687.1:c.925del	ENSP00000507945.1:p.Glu309SerfsTer12
ENST00000682727.1:c.925del	ENSP00000507393.1:p.Glu309SerfsTer12
ENST00000682876.1:c.1054del	ENSP00000508389.1:p.Glu352SerfsTer12
ENST00000683098.1:c.803+2987del	ENSP00000507670.1:n.803+2987del
ENST00000683258.1:c.*646del	ENSP00000507448.1:n.*646del
ENST00000683339.1:c.709del	ENSP00000507758.1:p.Glu237SerfsTer12
ENST00000683403.1:c.835del	ENSP00000507896.1:p.Glu279SerfsTer12
ENST00000683429.1:c.532del	ENSP00000507697.1:p.Glu178SerfsTer12
ENST00000683665.1:c.925del	ENSP00000507068.1:p.Glu309SerfsTer12
ENST00000683789.1:c.811del	ENSP00000507012.1:p.Glu271SerfsTer12
ENST00000683847.1:n.769del
ENST00000683882.1:c.925del	ENSP00000506735.1:p.Glu309SerfsTer12
ENST00000684024.1:c.*596del	ENSP00000507175.1:n.*596del
ENST00000684254.1:c.*651del	ENSP00000508001.1:n.*651del
ENST00000684310.1:c.165+130del	ENSP00000507550.1:n.165+130del
ENST00000684530.1:c.187del	ENSP00000507439.1:p.Glu63SerfsTer12
ENST00000684652.1:n.1927del
ENST00000340941.11:c.925del MANE Select	ENSP00000343657.6:p.Glu309SerfsTer12
ENST00000340941.10:c.925del	ENSP00000343657.6:p.Glu309SerfsTer12
ENST00000505435.3:n.276del
ENST00000509358.6:c.925del	ENSP00000420994.2:p.Glu309SerfsTer12
ENST00000509539.2:c.250del	ENSP00000425474.2:p.Glu84SerfsTer12
ENST00000510895.6:n.539del
ENST00000512218.6:c.811del	ENSP00000423202.2:p.Glu271SerfsTer12
ENST00000629193.2:c.811del	ENSP00000486535.1:p.Glu271SerfsTer12
NM_022132.4:c.925del	NP_071415.1:p.Glu309SerfsTer12
XM_005248567.1:c.811del	XP_005248624.1:p.Glu271SerfsTer12
XM_011543528.1:c.925del	XP_011541830.1:p.Glu309SerfsTer12
XM_011543529.1:c.925del	XP_011541831.1:p.Glu309SerfsTer12
NM_001363147.1:c.811del	NP_001350076.1:p.Glu271SerfsTer12
XM_011543529.2:c.925del	XP_011541831.1:p.Glu309SerfsTer12
XM_017009688.1:c.925del	XP_016865177.1:p.Glu309SerfsTer12
XR_001742172.1:n.965del
NM_022132.5:c.925del MANE Select	NP_071415.1:p.Glu309SerfsTer12