Canonical Allele Identifier: CA3297704

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71596297C>T , CM000667.2:g.71596297C>T	GRCh38
NC_000005.9:g.70892124C>T , CM000667.1:g.70892124C>T	GRCh37
NC_000005.8:g.70927880C>T	NCBI36
NG_008882.1:g.14010C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022132.5:c.214C>T MANE Select	NP_071415.1:p.Arg72Ter
ENST00000340941.11:c.214C>T MANE Select	ENSP00000343657.6:p.Arg72Ter
NM_001363147.1:c.214C>T	NP_001350076.1:p.Arg72Ter
NM_022132.4:c.214C>T	NP_071415.1:p.Arg72Ter
ENST00000340941.10:c.214C>T	ENSP00000343657.6:p.Arg72Ter
ENST00000505435.4:n.284C>T
ENST00000505787.7:n.28C>T
ENST00000505787.8:n.2054C>T
ENST00000507169.5:n.140C>T
ENST00000509358.6:c.214C>T	ENSP00000420994.2:p.Arg72Ter
ENST00000509358.7:c.214C>T	ENSP00000420994.3:p.Arg72Ter
ENST00000510895.7:n.337C>T
ENST00000512218.6:c.214C>T	ENSP00000423202.2:p.Arg72Ter
ENST00000629193.2:c.214C>T	ENSP00000486535.1:p.Arg72Ter
ENST00000629193.3:c.214C>T	ENSP00000486535.2:p.Arg72Ter
ENST00000681968.1:c.-180C>T	ENSP00000508143.1:n.-180C>T
ENST00000682045.1:c.70C>T	ENSP00000507329.1:p.Arg24Ter
ENST00000682214.1:c.-180C>T	ENSP00000507336.1:n.-180C>T
ENST00000682499.1:n.1035C>T
ENST00000682541.1:c.214C>T	ENSP00000507673.1:p.Arg72Ter
ENST00000682687.1:c.214C>T	ENSP00000507945.1:p.Arg72Ter
ENST00000682727.1:c.214C>T	ENSP00000507393.1:p.Arg72Ter
ENST00000682876.1:c.214C>T	ENSP00000508389.1:p.Arg72Ter
ENST00000683098.1:c.214C>T	ENSP00000507670.1:p.Arg72Ter
ENST00000683258.1:c.147C>T	ENSP00000507448.1:p.Pro49=
ENST00000683339.1:c.214C>T	ENSP00000507758.1:p.Arg72Ter
ENST00000683403.1:c.214C>T	ENSP00000507896.1:p.Arg72Ter
ENST00000683429.1:c.-180C>T	ENSP00000507697.1:n.-180C>T
ENST00000683665.1:c.214C>T	ENSP00000507068.1:p.Arg72Ter
ENST00000683789.1:c.214C>T	ENSP00000507012.1:p.Arg72Ter
ENST00000683882.1:c.214C>T	ENSP00000506735.1:p.Arg72Ter
ENST00000684024.1:c.130-3362C>T	ENSP00000507175.1:n.130-3362C>T
ENST00000684254.1:c.147C>T	ENSP00000508001.1:p.Pro49=
XM_005248567.1:c.214C>T	XP_005248624.1:p.Arg72Ter
XM_011543528.1:c.214C>T	XP_011541830.1:p.Arg72Ter
XM_011543529.1:c.214C>T	XP_011541831.1:p.Arg72Ter
XM_011543529.2:c.214C>T	XP_011541831.1:p.Arg72Ter
XM_017009688.1:c.214C>T	XP_016865177.1:p.Arg72Ter
XR_001742172.1:n.254C>T