Canonical Allele Identifier: CA234252

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71649247C>T , CM000667.2:g.71649247C>T	GRCh38
NC_000005.9:g.70945074C>T , CM000667.1:g.70945074C>T	GRCh37
NC_000005.8:g.70980830C>T	NCBI36
NG_008882.1:g.66960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.2975C>T
ENST00000505787.8:n.3198C>T
ENST00000509539.3:c.693C>T	ENSP00000425474.3:n.693C>T
ENST00000681968.1:c.860C>T	ENSP00000508143.1:p.Ala287Val
ENST00000681991.1:n.1451C>T
ENST00000682045.1:c.1223C>T	ENSP00000507329.1:p.Ala408Val
ENST00000682214.1:c.974C>T	ENSP00000507336.1:p.Ala325Val
ENST00000682231.1:n.385C>T
ENST00000682438.1:n.3366C>T
ENST00000682499.1:n.2188C>T
ENST00000682541.1:c.*265C>T	ENSP00000507673.1:n.*265C>T
ENST00000682640.1:n.1071C>T
ENST00000682667.1:n.1559C>T
ENST00000682687.1:c.*319C>T	ENSP00000507945.1:n.*319C>T
ENST00000682727.1:c.1358C>T	ENSP00000507393.1:p.Ala453Val
ENST00000682876.1:c.1496C>T	ENSP00000508389.1:p.Ala499Val
ENST00000683098.1:c.*55C>T	ENSP00000507670.1:n.*55C>T
ENST00000683258.1:c.*1088C>T	ENSP00000507448.1:n.*1088C>T
ENST00000683339.1:c.1151C>T	ENSP00000507758.1:p.Ala384Val
ENST00000683403.1:c.1277C>T	ENSP00000507896.1:p.Ala426Val
ENST00000683429.1:c.974C>T	ENSP00000507697.1:p.Ala325Val
ENST00000683789.1:c.1253C>T	ENSP00000507012.1:p.Ala418Val
ENST00000683847.1:n.1537C>T
ENST00000683882.1:c.*308C>T	ENSP00000506735.1:n.*308C>T
ENST00000684024.1:c.*1038C>T	ENSP00000507175.1:n.*1038C>T
ENST00000684132.1:c.295C>T
ENST00000684254.1:c.*1093C>T	ENSP00000508001.1:n.*1093C>T
ENST00000684310.1:c.533C>T	ENSP00000507550.1:p.Ala178Val
ENST00000684316.1:n.205C>T
ENST00000684474.1:n.1003C>T
ENST00000684530.1:c.485C>T	ENSP00000507439.1:p.Ala162Val
ENST00000684686.1:n.986C>T
ENST00000340941.11:c.1367C>T MANE Select	ENSP00000343657.6:p.Ala456Val
ENST00000340941.10:c.1367C>T	ENSP00000343657.6:p.Ala456Val
ENST00000509539.2:c.683C>T	ENSP00000425474.2:p.Ala228Val
ENST00000512218.6:c.*319C>T	ENSP00000423202.2:n.*319C>T
NM_022132.4:c.1367C>T	NP_071415.1:p.Ala456Val
XM_005248567.1:c.1253C>T	XP_005248624.1:p.Ala418Val
NM_001363147.1:c.1253C>T	NP_001350076.1:p.Ala418Val
XR_001742172.1:n.1455C>T
NM_022132.5:c.1367C>T MANE Select	NP_071415.1:p.Ala456Val