Canonical Allele Identifier: CA1554387722

Gene: MCCC2

Linked Data

• dbSNP Id: rs1746868193

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.824del
ENST00000505787.8:n.2708del
ENST00000509358.7:c.868del	ENSP00000420994.3:p.Val290LeufsTer2
ENST00000509539.3:c.130del	ENSP00000425474.3:p.Val44LeufsTer2
ENST00000510895.7:n.991del
ENST00000629193.3:c.754del	ENSP00000486535.2:p.Val252LeufsTer2
ENST00000681968.1:c.361del	ENSP00000508143.1:p.Val121LeufsTer2
ENST00000682045.1:c.724del	ENSP00000507329.1:p.Val242LeufsTer2
ENST00000682214.1:c.475del	ENSP00000507336.1:p.Val159LeufsTer2
ENST00000682499.1:n.1689del
ENST00000682541.1:c.868del	ENSP00000507673.1:p.Val290LeufsTer2
ENST00000682687.1:c.868del	ENSP00000507945.1:p.Val290LeufsTer2
ENST00000682727.1:c.868del	ENSP00000507393.1:p.Val290LeufsTer2
ENST00000682876.1:c.997del	ENSP00000508389.1:p.Val333LeufsTer2
ENST00000683098.1:c.803+2822del	ENSP00000507670.1:n.803+2822del
ENST00000683258.1:c.*589del	ENSP00000507448.1:n.*589del
ENST00000683339.1:c.652del	ENSP00000507758.1:p.Val218LeufsTer2
ENST00000683403.1:c.813+55del	ENSP00000507896.1:n.813+55del
ENST00000683429.1:c.475del	ENSP00000507697.1:p.Val159LeufsTer2
ENST00000683665.1:c.868del	ENSP00000507068.1:p.Val290LeufsTer2
ENST00000683789.1:c.754del	ENSP00000507012.1:p.Val252LeufsTer2
ENST00000683847.1:n.712del
ENST00000683882.1:c.868del	ENSP00000506735.1:p.Val290LeufsTer2
ENST00000684024.1:c.*539del	ENSP00000507175.1:n.*539del
ENST00000684254.1:c.*594del	ENSP00000508001.1:n.*594del
ENST00000684310.1:c.130del	ENSP00000507550.1:p.Val44LeufsTer2
ENST00000684530.1:c.130del	ENSP00000507439.1:p.Val44LeufsTer2
ENST00000684652.1:n.1870del
ENST00000340941.11:c.868del MANE Select	ENSP00000343657.6:p.Val290LeufsTer2
ENST00000340941.10:c.868del	ENSP00000343657.6:p.Val290LeufsTer2
ENST00000505435.3:n.219del
ENST00000505787.7:n.682del
ENST00000509358.6:c.868del	ENSP00000420994.2:p.Val290LeufsTer2
ENST00000509539.2:c.193del	ENSP00000425474.2:p.Val65LeufsTer2
ENST00000510895.6:n.482del
ENST00000512218.6:c.754del	ENSP00000423202.2:p.Val252LeufsTer2
ENST00000629193.2:c.754del	ENSP00000486535.1:p.Val252LeufsTer2
NM_022132.4:c.868del	NP_071415.1:p.Val290LeufsTer2
XM_005248567.1:c.754del	XP_005248624.1:p.Val252LeufsTer2
XM_011543528.1:c.868del	XP_011541830.1:p.Val290LeufsTer2
XM_011543529.1:c.868del	XP_011541831.1:p.Val290LeufsTer2
NM_001363147.1:c.754del	NP_001350076.1:p.Val252LeufsTer2
XM_011543529.2:c.868del	XP_011541831.1:p.Val290LeufsTer2
XM_017009688.1:c.868del	XP_016865177.1:p.Val290LeufsTer2
XR_001742172.1:n.908del
NM_022132.5:c.868del MANE Select	NP_071415.1:p.Val290LeufsTer2