Canonical Allele Identifier: CA3298242

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71656858T>C , CM000667.2:g.71656858T>C	GRCh38
NC_000005.9:g.70952685T>C , CM000667.1:g.70952685T>C	GRCh37
NC_000005.8:g.70988441T>C	NCBI36
NG_008882.1:g.74571T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022132.5:c.1690T>C MANE Select	NP_071415.1:p.Ter564Gln
ENST00000340941.11:c.1690T>C MANE Select	ENSP00000343657.6:p.Ter564Gln
NM_001363147.1:c.1576T>C	NP_001350076.1:p.Ter526Gln
NM_022132.4:c.1690T>C	NP_071415.1:p.Ter564Gln
ENST00000340941.10:c.1690T>C	ENSP00000343657.6:p.Ter564Gln
ENST00000505435.4:n.3298T>C
ENST00000505787.8:n.3521T>C
ENST00000512218.6:c.*642T>C	ENSP00000423202.2:n.*642T>C
ENST00000681968.1:c.1183T>C	ENSP00000508143.1:p.Ter395Gln
ENST00000681991.1:n.1774T>C
ENST00000682045.1:c.1546T>C	ENSP00000507329.1:p.Ter516Gln
ENST00000682175.1:n.3522T>C
ENST00000682214.1:c.1297T>C	ENSP00000507336.1:p.Ter433Gln
ENST00000682231.1:n.708T>C
ENST00000682438.1:n.3689T>C
ENST00000682499.1:n.2511T>C
ENST00000682541.1:c.*588T>C	ENSP00000507673.1:n.*588T>C
ENST00000682640.1:n.1394T>C
ENST00000682667.1:n.1882T>C
ENST00000682687.1:c.*642T>C	ENSP00000507945.1:n.*642T>C
ENST00000682727.1:c.1681T>C	ENSP00000507393.1:p.Ter561Gln
ENST00000682876.1:c.1819T>C	ENSP00000508389.1:p.Ter607Gln
ENST00000683098.1:c.*378T>C	ENSP00000507670.1:n.*378T>C
ENST00000683258.1:c.*1411T>C	ENSP00000507448.1:n.*1411T>C
ENST00000683339.1:c.1474T>C	ENSP00000507758.1:p.Ter492Gln
ENST00000683403.1:c.1600T>C	ENSP00000507896.1:p.Ter534Gln
ENST00000683429.1:c.1297T>C	ENSP00000507697.1:p.Ter433Gln
ENST00000683789.1:c.1576T>C	ENSP00000507012.1:p.Ter526Gln
ENST00000683847.1:n.1925T>C
ENST00000683882.1:c.*631T>C	ENSP00000506735.1:n.*631T>C
ENST00000684024.1:c.*1361T>C	ENSP00000507175.1:n.*1361T>C
ENST00000684132.1:c.893T>C
ENST00000684254.1:c.*1416T>C	ENSP00000508001.1:n.*1416T>C
ENST00000684310.1:c.856T>C	ENSP00000507550.1:p.Ter286Gln
ENST00000684473.1:n.1089T>C
ENST00000684474.1:n.1326T>C
ENST00000684530.1:c.808T>C	ENSP00000507439.1:p.Ter270Gln
ENST00000684686.1:n.1309T>C
XM_005248567.1:c.1576T>C	XP_005248624.1:p.Ter526Gln
XR_001742172.1:n.1778T>C