Canonical Allele Identifier: CA359999498

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71650181C>T , CM000667.2:g.71650181C>T	GRCh38
NC_000005.9:g.70946008C>T , CM000667.1:g.70946008C>T	GRCh37
NC_000005.8:g.70981764C>T	NCBI36
NG_008882.1:g.67894C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022132.5:c.1486C>T MANE Select	NP_071415.1:p.Gln496Ter
ENST00000340941.11:c.1486C>T MANE Select	ENSP00000343657.6:p.Gln496Ter
NM_001363147.1:c.1372C>T	NP_001350076.1:p.Gln458Ter
NM_022132.4:c.1486C>T	NP_071415.1:p.Gln496Ter
ENST00000340941.10:c.1486C>T	ENSP00000343657.6:p.Gln496Ter
ENST00000505435.4:n.3094C>T
ENST00000505787.8:n.3317C>T
ENST00000509539.2:c.802C>T	ENSP00000425474.2:p.Gln268Ter
ENST00000509539.3:c.812C>T	ENSP00000425474.3:n.812C>T
ENST00000512218.6:c.*438C>T	ENSP00000423202.2:n.*438C>T
ENST00000681968.1:c.979C>T	ENSP00000508143.1:p.Gln327Ter
ENST00000681991.1:n.1570C>T
ENST00000682045.1:c.1342C>T	ENSP00000507329.1:p.Gln448Ter
ENST00000682175.1:n.833C>T
ENST00000682214.1:c.1093C>T	ENSP00000507336.1:p.Gln365Ter
ENST00000682231.1:n.504C>T
ENST00000682438.1:n.3485C>T
ENST00000682499.1:n.2307C>T
ENST00000682541.1:c.*384C>T	ENSP00000507673.1:n.*384C>T
ENST00000682640.1:n.1190C>T
ENST00000682667.1:n.1678C>T
ENST00000682687.1:c.*438C>T	ENSP00000507945.1:n.*438C>T
ENST00000682727.1:c.1477C>T	ENSP00000507393.1:p.Gln493Ter
ENST00000682876.1:c.1615C>T	ENSP00000508389.1:p.Gln539Ter
ENST00000683098.1:c.*174C>T	ENSP00000507670.1:n.*174C>T
ENST00000683258.1:c.*1207C>T	ENSP00000507448.1:n.*1207C>T
ENST00000683339.1:c.1270C>T	ENSP00000507758.1:p.Gln424Ter
ENST00000683403.1:c.1396C>T	ENSP00000507896.1:p.Gln466Ter
ENST00000683429.1:c.1093C>T	ENSP00000507697.1:p.Gln365Ter
ENST00000683789.1:c.1372C>T	ENSP00000507012.1:p.Gln458Ter
ENST00000683847.1:n.1656C>T
ENST00000683882.1:c.*427C>T	ENSP00000506735.1:n.*427C>T
ENST00000684024.1:c.*1157C>T	ENSP00000507175.1:n.*1157C>T
ENST00000684132.1:c.414C>T
ENST00000684254.1:c.*1212C>T	ENSP00000508001.1:n.*1212C>T
ENST00000684310.1:c.652C>T	ENSP00000507550.1:p.Gln218Ter
ENST00000684473.1:n.885C>T
ENST00000684474.1:n.1122C>T
ENST00000684530.1:c.604C>T	ENSP00000507439.1:p.Gln202Ter
ENST00000684686.1:n.1105C>T
XM_005248567.1:c.1372C>T	XP_005248624.1:p.Gln458Ter
XR_001742172.1:n.1574C>T