Canonical Allele Identifier: CA359986875

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930834G>A (hg19) ; chr5:g.71635007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635007G>A , CM000667.2:g.71635007G>A	GRCh38
NC_000005.9:g.70930834G>A , CM000667.1:g.70930834G>A	GRCh37
NC_000005.8:g.70966590G>A	NCBI36
NG_008882.1:g.52720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.824G>A
ENST00000505787.8:n.2708G>A
ENST00000509358.7:c.868G>A	ENSP00000420994.3:p.Val290Ile
ENST00000509539.3:c.130G>A	ENSP00000425474.3:p.Val44Ile
ENST00000510895.7:n.991G>A
ENST00000629193.3:c.754G>A	ENSP00000486535.2:p.Val252Ile
ENST00000681968.1:c.361G>A	ENSP00000508143.1:p.Val121Ile
ENST00000682045.1:c.724G>A	ENSP00000507329.1:p.Val242Ile
ENST00000682214.1:c.475G>A	ENSP00000507336.1:p.Val159Ile
ENST00000682499.1:n.1689G>A
ENST00000682541.1:c.868G>A	ENSP00000507673.1:p.Val290Ile
ENST00000682687.1:c.868G>A	ENSP00000507945.1:p.Val290Ile
ENST00000682727.1:c.868G>A	ENSP00000507393.1:p.Val290Ile
ENST00000682876.1:c.997G>A	ENSP00000508389.1:p.Val333Ile
ENST00000683098.1:c.803+2822G>A	ENSP00000507670.1:n.803+2822G>A
ENST00000683258.1:c.*589G>A	ENSP00000507448.1:n.*589G>A
ENST00000683339.1:c.652G>A	ENSP00000507758.1:p.Val218Ile
ENST00000683403.1:c.813+55G>A	ENSP00000507896.1:n.813+55G>A
ENST00000683429.1:c.475G>A	ENSP00000507697.1:p.Val159Ile
ENST00000683665.1:c.868G>A	ENSP00000507068.1:p.Val290Ile
ENST00000683789.1:c.754G>A	ENSP00000507012.1:p.Val252Ile
ENST00000683847.1:n.712G>A
ENST00000683882.1:c.868G>A	ENSP00000506735.1:p.Val290Ile
ENST00000684024.1:c.*539G>A	ENSP00000507175.1:n.*539G>A
ENST00000684254.1:c.*594G>A	ENSP00000508001.1:n.*594G>A
ENST00000684310.1:c.130G>A	ENSP00000507550.1:p.Val44Ile
ENST00000684530.1:c.130G>A	ENSP00000507439.1:p.Val44Ile
ENST00000684652.1:n.1870G>A
ENST00000340941.11:c.868G>A MANE Select	ENSP00000343657.6:p.Val290Ile
ENST00000340941.10:c.868G>A	ENSP00000343657.6:p.Val290Ile
ENST00000505435.3:n.219G>A
ENST00000505787.7:n.682G>A
ENST00000509358.6:c.868G>A	ENSP00000420994.2:p.Val290Ile
ENST00000509539.2:c.193G>A	ENSP00000425474.2:p.Val65Ile
ENST00000510895.6:n.482G>A
ENST00000512218.6:c.754G>A	ENSP00000423202.2:p.Val252Ile
ENST00000629193.2:c.754G>A	ENSP00000486535.1:p.Val252Ile
NM_022132.4:c.868G>A	NP_071415.1:p.Val290Ile
XM_005248567.1:c.754G>A	XP_005248624.1:p.Val252Ile
XM_011543528.1:c.868G>A	XP_011541830.1:p.Val290Ile
XM_011543529.1:c.868G>A	XP_011541831.1:p.Val290Ile
NM_001363147.1:c.754G>A	NP_001350076.1:p.Val252Ile
XM_011543529.2:c.868G>A	XP_011541831.1:p.Val290Ile
XM_017009688.1:c.868G>A	XP_016865177.1:p.Val290Ile
XR_001742172.1:n.908G>A
NM_022132.5:c.868G>A MANE Select	NP_071415.1:p.Val290Ile