Canonical Allele Identifier: CA1554397228

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71646221T= , CM000667.2:g.71646221T=	GRCh38
NC_000005.9:g.70942048T= , CM000667.1:g.70942048T=	GRCh37
NC_000005.8:g.70977804T=	NCBI36
NG_008882.1:g.63934T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.2768T=
ENST00000505787.8:n.2991T=
ENST00000509539.3:c.486T=	ENSP00000425474.3:n.486T=
ENST00000681968.1:c.653T=	ENSP00000508143.1:p.Phe218=
ENST00000681991.1:n.1244T=
ENST00000682045.1:c.1016T=	ENSP00000507329.1:p.Phe339=
ENST00000682214.1:c.767T=	ENSP00000507336.1:p.Phe256=
ENST00000682231.1:n.178T=
ENST00000682438.1:n.3159T=
ENST00000682499.1:n.1981T=
ENST00000682541.1:c.*58T=	ENSP00000507673.1:n.*58T=
ENST00000682640.1:n.864T=
ENST00000682667.1:n.1325T=
ENST00000682687.1:c.*112T=	ENSP00000507945.1:n.*112T=
ENST00000682727.1:c.1151T=	ENSP00000507393.1:p.Phe384=
ENST00000682876.1:c.1289T=	ENSP00000508389.1:p.Phe430=
ENST00000683098.1:c.814T=	ENSP00000507670.1:p.Leu272=
ENST00000683258.1:c.*881T=	ENSP00000507448.1:n.*881T=
ENST00000683339.1:c.944T=	ENSP00000507758.1:p.Phe315=
ENST00000683403.1:c.1070T=	ENSP00000507896.1:p.Phe357=
ENST00000683429.1:c.767T=	ENSP00000507697.1:p.Phe256=
ENST00000683789.1:c.1046T=	ENSP00000507012.1:p.Phe349=
ENST00000683847.1:n.1330T=
ENST00000683882.1:c.*101T=	ENSP00000506735.1:n.*101T=
ENST00000684024.1:c.*831T=	ENSP00000507175.1:n.*831T=
ENST00000684132.1:c.88T=
ENST00000684254.1:c.*886T=	ENSP00000508001.1:n.*886T=
ENST00000684310.1:c.326T=	ENSP00000507550.1:p.Phe109=
ENST00000684474.1:n.796T=
ENST00000684530.1:c.335-2876T=	ENSP00000507439.1:n.335-2876T=
ENST00000684686.1:n.779T=
ENST00000340941.11:c.1160T= MANE Select	ENSP00000343657.6:p.Phe387=
ENST00000340941.10:c.1160T=	ENSP00000343657.6:p.Phe387=
ENST00000509539.2:c.476T=	ENSP00000425474.2:p.Phe159=
ENST00000512218.6:c.*112T=	ENSP00000423202.2:n.*112T=
NM_022132.4:c.1160T=	NP_071415.1:p.Phe387=
XM_005248567.1:c.1046T=	XP_005248624.1:p.Phe349=
NM_001363147.1:c.1046T=	NP_001350076.1:p.Phe349=
XR_001742172.1:n.1248T=
NM_022132.5:c.1160T= MANE Select	NP_071415.1:p.Phe387=