Canonical Allele Identifier: CA444802308

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71646240A>G , CM000667.2:g.71646240A>G	GRCh38
NC_000005.9:g.70942067A>G , CM000667.1:g.70942067A>G	GRCh37
NC_000005.8:g.70977823A>G	NCBI36
NG_008882.1:g.63953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.2787A>G
ENST00000505787.8:n.3010A>G
ENST00000509539.3:c.505A>G	ENSP00000425474.3:n.505A>G
ENST00000681968.1:c.672A>G	ENSP00000508143.1:p.Gln224=
ENST00000681991.1:n.1263A>G
ENST00000682045.1:c.1035A>G	ENSP00000507329.1:p.Gln345=
ENST00000682214.1:c.786A>G	ENSP00000507336.1:p.Gln262=
ENST00000682231.1:n.197A>G
ENST00000682438.1:n.3178A>G
ENST00000682499.1:n.2000A>G
ENST00000682541.1:c.*77A>G	ENSP00000507673.1:n.*77A>G
ENST00000682640.1:n.883A>G
ENST00000682667.1:n.1344A>G
ENST00000682687.1:c.*131A>G	ENSP00000507945.1:n.*131A>G
ENST00000682727.1:c.1170A>G	ENSP00000507393.1:p.Gln390=
ENST00000682876.1:c.1308A>G	ENSP00000508389.1:p.Gln436=
ENST00000683098.1:c.833A>G	ENSP00000507670.1:p.Lys278Arg
ENST00000683258.1:c.*900A>G	ENSP00000507448.1:n.*900A>G
ENST00000683339.1:c.963A>G	ENSP00000507758.1:p.Gln321=
ENST00000683403.1:c.1089A>G	ENSP00000507896.1:p.Gln363=
ENST00000683429.1:c.786A>G	ENSP00000507697.1:p.Gln262=
ENST00000683789.1:c.1065A>G	ENSP00000507012.1:p.Gln355=
ENST00000683847.1:n.1349A>G
ENST00000683882.1:c.*120A>G	ENSP00000506735.1:n.*120A>G
ENST00000684024.1:c.*850A>G	ENSP00000507175.1:n.*850A>G
ENST00000684132.1:c.107A>G
ENST00000684254.1:c.*905A>G	ENSP00000508001.1:n.*905A>G
ENST00000684310.1:c.345A>G	ENSP00000507550.1:p.Gln115=
ENST00000684316.1:n.17A>G
ENST00000684474.1:n.815A>G
ENST00000684530.1:c.335-2857A>G	ENSP00000507439.1:n.335-2857A>G
ENST00000684686.1:n.798A>G
ENST00000340941.11:c.1179A>G MANE Select	ENSP00000343657.6:p.Gln393=
ENST00000340941.10:c.1179A>G	ENSP00000343657.6:p.Gln393=
ENST00000509539.2:c.495A>G	ENSP00000425474.2:p.Gln165=
ENST00000512218.6:c.*131A>G	ENSP00000423202.2:n.*131A>G
NM_022132.4:c.1179A>G	NP_071415.1:p.Gln393=
XM_005248567.1:c.1065A>G	XP_005248624.1:p.Gln355=
NM_001363147.1:c.1065A>G	NP_001350076.1:p.Gln355=
XR_001742172.1:n.1267A>G
NM_022132.5:c.1179A>G MANE Select	NP_071415.1:p.Gln393=