Canonical Allele Identifier: CA359986863

Gene: MCCC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.824G>T
ENST00000505787.8:n.2708G>T
ENST00000509358.7:c.868G>T	ENSP00000420994.3:p.Val290Phe
ENST00000509539.3:c.130G>T	ENSP00000425474.3:p.Val44Phe
ENST00000510895.7:n.991G>T
ENST00000629193.3:c.754G>T	ENSP00000486535.2:p.Val252Phe
ENST00000681968.1:c.361G>T	ENSP00000508143.1:p.Val121Phe
ENST00000682045.1:c.724G>T	ENSP00000507329.1:p.Val242Phe
ENST00000682214.1:c.475G>T	ENSP00000507336.1:p.Val159Phe
ENST00000682499.1:n.1689G>T
ENST00000682541.1:c.868G>T	ENSP00000507673.1:p.Val290Phe
ENST00000682687.1:c.868G>T	ENSP00000507945.1:p.Val290Phe
ENST00000682727.1:c.868G>T	ENSP00000507393.1:p.Val290Phe
ENST00000682876.1:c.997G>T	ENSP00000508389.1:p.Val333Phe
ENST00000683098.1:c.803+2822G>T	ENSP00000507670.1:n.803+2822G>T
ENST00000683258.1:c.*589G>T	ENSP00000507448.1:n.*589G>T
ENST00000683339.1:c.652G>T	ENSP00000507758.1:p.Val218Phe
ENST00000683403.1:c.813+55G>T	ENSP00000507896.1:n.813+55G>T
ENST00000683429.1:c.475G>T	ENSP00000507697.1:p.Val159Phe
ENST00000683665.1:c.868G>T	ENSP00000507068.1:p.Val290Phe
ENST00000683789.1:c.754G>T	ENSP00000507012.1:p.Val252Phe
ENST00000683847.1:n.712G>T
ENST00000683882.1:c.868G>T	ENSP00000506735.1:p.Val290Phe
ENST00000684024.1:c.*539G>T	ENSP00000507175.1:n.*539G>T
ENST00000684254.1:c.*594G>T	ENSP00000508001.1:n.*594G>T
ENST00000684310.1:c.130G>T	ENSP00000507550.1:p.Val44Phe
ENST00000684530.1:c.130G>T	ENSP00000507439.1:p.Val44Phe
ENST00000684652.1:n.1870G>T
ENST00000340941.11:c.868G>T MANE Select	ENSP00000343657.6:p.Val290Phe
ENST00000340941.10:c.868G>T	ENSP00000343657.6:p.Val290Phe
ENST00000505435.3:n.219G>T
ENST00000505787.7:n.682G>T
ENST00000509358.6:c.868G>T	ENSP00000420994.2:p.Val290Phe
ENST00000509539.2:c.193G>T	ENSP00000425474.2:p.Val65Phe
ENST00000510895.6:n.482G>T
ENST00000512218.6:c.754G>T	ENSP00000423202.2:p.Val252Phe
ENST00000629193.2:c.754G>T	ENSP00000486535.1:p.Val252Phe
NM_022132.4:c.868G>T	NP_071415.1:p.Val290Phe
XM_005248567.1:c.754G>T	XP_005248624.1:p.Val252Phe
XM_011543528.1:c.868G>T	XP_011541830.1:p.Val290Phe
XM_011543529.1:c.868G>T	XP_011541831.1:p.Val290Phe
NM_001363147.1:c.754G>T	NP_001350076.1:p.Val252Phe
XM_011543529.2:c.868G>T	XP_011541831.1:p.Val290Phe
XM_017009688.1:c.868G>T	XP_016865177.1:p.Val290Phe
XR_001742172.1:n.908G>T
NM_022132.5:c.868G>T MANE Select	NP_071415.1:p.Val290Phe