Canonical Allele Identifier: CA359983581

Gene: MCCC2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71626724G>C , CM000667.2:g.71626724G>C	GRCh38
NC_000005.9:g.70922551G>C , CM000667.1:g.70922551G>C	GRCh37
NC_000005.8:g.70958307G>C	NCBI36
NG_008882.1:g.44437G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.695-5397G>C
ENST00000505787.8:n.2549G>C
ENST00000509358.7:c.709G>C	ENSP00000420994.3:p.Gly237Arg
ENST00000510895.7:n.832G>C
ENST00000629193.3:c.625-5397G>C	ENSP00000486535.2:n.625-5397G>C
ENST00000681968.1:c.232-5397G>C	ENSP00000508143.1:n.232-5397G>C
ENST00000682045.1:c.565G>C	ENSP00000507329.1:p.Gly189Arg
ENST00000682214.1:c.316G>C	ENSP00000507336.1:p.Gly106Arg
ENST00000682499.1:n.1530G>C
ENST00000682541.1:c.709G>C	ENSP00000507673.1:p.Gly237Arg
ENST00000682687.1:c.709G>C	ENSP00000507945.1:p.Gly237Arg
ENST00000682727.1:c.709G>C	ENSP00000507393.1:p.Gly237Arg
ENST00000682876.1:c.709G>C	ENSP00000508389.1:p.Gly237Arg
ENST00000683098.1:c.709G>C	ENSP00000507670.1:p.Gly237Arg
ENST00000683258.1:c.*430G>C	ENSP00000507448.1:n.*430G>C
ENST00000683339.1:c.523-5397G>C	ENSP00000507758.1:n.523-5397G>C
ENST00000683403.1:c.709G>C	ENSP00000507896.1:p.Gly237Arg
ENST00000683429.1:c.316G>C	ENSP00000507697.1:p.Gly106Arg
ENST00000683665.1:c.709G>C	ENSP00000507068.1:p.Gly237Arg
ENST00000683789.1:c.625-5397G>C	ENSP00000507012.1:n.625-5397G>C
ENST00000683882.1:c.709G>C	ENSP00000506735.1:p.Gly237Arg
ENST00000684024.1:c.*380G>C	ENSP00000507175.1:n.*380G>C
ENST00000684254.1:c.*435G>C	ENSP00000508001.1:n.*435G>C
ENST00000340941.11:c.709G>C MANE Select	ENSP00000343657.6:p.Gly237Arg
ENST00000340941.10:c.709G>C	ENSP00000343657.6:p.Gly237Arg
ENST00000505435.3:n.90-5397G>C
ENST00000505787.7:n.523G>C
ENST00000509358.6:c.709G>C	ENSP00000420994.2:p.Gly237Arg
ENST00000509539.2:c.34G>C	ENSP00000425474.2:p.Gly12Arg
ENST00000510895.6:n.323G>C
ENST00000512218.6:c.625-5397G>C	ENSP00000423202.2:n.625-5397G>C
ENST00000629193.2:c.625-5397G>C	ENSP00000486535.1:n.625-5397G>C
NM_022132.4:c.709G>C	NP_071415.1:p.Gly237Arg
XM_005248567.1:c.625-5397G>C	XP_005248624.1:n.625-5397G>C
XM_011543528.1:c.709G>C	XP_011541830.1:p.Gly237Arg
XM_011543529.1:c.709G>C	XP_011541831.1:p.Gly237Arg
NM_001363147.1:c.625-5397G>C	NP_001350076.1:n.625-5397G>C
XM_011543529.2:c.709G>C	XP_011541831.1:p.Gly237Arg
XM_017009688.1:c.709G>C	XP_016865177.1:p.Gly237Arg
XR_001742172.1:n.749G>C
NM_022132.5:c.709G>C MANE Select	NP_071415.1:p.Gly237Arg