Canonical Allele Identifier: CA359991460

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71641057G>C , CM000667.2:g.71641057G>C	GRCh38
NC_000005.9:g.70936884G>C , CM000667.1:g.70936884G>C	GRCh37
NC_000005.8:g.70972640G>C	NCBI36
NG_008882.1:g.58770G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022132.5:c.1054G>C MANE Select	NP_071415.1:p.Gly352Arg
ENST00000340941.11:c.1054G>C MANE Select	ENSP00000343657.6:p.Gly352Arg
NM_001363147.1:c.940G>C	NP_001350076.1:p.Gly314Arg
NM_022132.4:c.1054G>C	NP_071415.1:p.Gly352Arg
ENST00000340941.10:c.1054G>C	ENSP00000343657.6:p.Gly352Arg
ENST00000505435.3:n.405G>C
ENST00000505435.4:n.1010G>C
ENST00000505787.8:n.2904-2762G>C
ENST00000509358.6:c.1054G>C	ENSP00000420994.2:p.Gly352Arg
ENST00000509358.7:c.*44G>C	ENSP00000420994.3:n.*44G>C
ENST00000509539.2:c.389-2762G>C	ENSP00000425474.2:n.389-2762G>C
ENST00000509539.3:c.316G>C	ENSP00000425474.3:p.Gly106Arg
ENST00000512218.6:c.940G>C	ENSP00000423202.2:p.Gly314Arg
ENST00000629193.2:c.940G>C	ENSP00000486535.1:p.Gly314Arg
ENST00000629193.3:c.940G>C	ENSP00000486535.2:p.Gly314Arg
ENST00000681968.1:c.547G>C	ENSP00000508143.1:p.Gly183Arg
ENST00000681991.1:n.1138G>C
ENST00000682045.1:c.910G>C	ENSP00000507329.1:p.Gly304Arg
ENST00000682214.1:c.661G>C	ENSP00000507336.1:p.Gly221Arg
ENST00000682231.1:n.72G>C
ENST00000682499.1:n.1875G>C
ENST00000682541.1:c.1000-2762G>C	ENSP00000507673.1:n.1000-2762G>C
ENST00000682667.1:n.1246G>C
ENST00000682687.1:c.1054G>C	ENSP00000507945.1:p.Gly352Arg
ENST00000682727.1:c.1064-2762G>C	ENSP00000507393.1:n.1064-2762G>C
ENST00000682876.1:c.1183G>C	ENSP00000508389.1:p.Gly395Arg
ENST00000683098.1:c.804-5154G>C	ENSP00000507670.1:n.804-5154G>C
ENST00000683258.1:c.*775G>C	ENSP00000507448.1:n.*775G>C
ENST00000683339.1:c.838G>C	ENSP00000507758.1:p.Gly280Arg
ENST00000683403.1:c.964G>C	ENSP00000507896.1:p.Gly322Arg
ENST00000683429.1:c.661G>C	ENSP00000507697.1:p.Gly221Arg
ENST00000683665.1:c.1054G>C	ENSP00000507068.1:p.Gly352Arg
ENST00000683789.1:c.940G>C	ENSP00000507012.1:p.Gly314Arg
ENST00000683847.1:n.1056G>C
ENST00000683882.1:c.1054G>C	ENSP00000506735.1:p.Gly352Arg
ENST00000684024.1:c.*725G>C	ENSP00000507175.1:n.*725G>C
ENST00000684254.1:c.*780G>C	ENSP00000508001.1:n.*780G>C
ENST00000684310.1:c.220G>C	ENSP00000507550.1:p.Gly74Arg
ENST00000684474.1:n.642G>C
ENST00000684530.1:c.316G>C	ENSP00000507439.1:p.Gly106Arg
ENST00000684686.1:n.673G>C
XM_005248567.1:c.940G>C	XP_005248624.1:p.Gly314Arg
XM_011543528.1:c.1054G>C	XP_011541830.1:p.Gly352Arg
XM_017009688.1:c.1064-2714G>C	XP_016865177.1:n.1064-2714G>C
XR_001742172.1:n.1094G>C