Canonical Allele Identifier: CA359987875
Gene: MCCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 576604
ClinVar RCV Id: RCV000699138
dbSNP Id: rs1487531101

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635246G>T , CM000667.2:g.71635246G>T GRCh38
NC_000005.9:g.70931073G>T , CM000667.1:g.70931073G>T GRCh37
NC_000005.8:g.70966829G>T NCBI36
NG_008882.1:g.52959G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.955G>T
ENST00000505787.8:n.2839G>T
ENST00000509358.7:c.999G>T ENSP00000420994.3:p.Glu333Asp
ENST00000509539.3:c.261G>T ENSP00000425474.3:p.Glu87Asp
ENST00000510895.7:n.1122G>T
ENST00000629193.3:c.885G>T ENSP00000486535.2:p.Glu295Asp
ENST00000681968.1:c.492G>T ENSP00000508143.1:p.Glu164Asp
ENST00000682045.1:c.855G>T ENSP00000507329.1:p.Glu285Asp
ENST00000682214.1:c.606G>T ENSP00000507336.1:p.Glu202Asp
ENST00000682499.1:n.1820G>T
ENST00000682541.1:c.999G>T ENSP00000507673.1:p.Glu333Asp
ENST00000682687.1:c.999G>T ENSP00000507945.1:p.Glu333Asp
ENST00000682727.1:c.999G>T ENSP00000507393.1:p.Glu333Asp
ENST00000682876.1:c.1128G>T ENSP00000508389.1:p.Glu376Asp
ENST00000683098.1:c.803+3061G>T ENSP00000507670.1:n.803+3061G>T
ENST00000683258.1:c.*720G>T ENSP00000507448.1:n.*720G>T
ENST00000683339.1:c.783G>T ENSP00000507758.1:p.Glu261Asp
ENST00000683403.1:c.909G>T ENSP00000507896.1:p.Glu303Asp
ENST00000683429.1:c.606G>T ENSP00000507697.1:p.Glu202Asp
ENST00000683665.1:c.999G>T ENSP00000507068.1:p.Glu333Asp
ENST00000683789.1:c.885G>T ENSP00000507012.1:p.Glu295Asp
ENST00000683847.1:n.843G>T
ENST00000683882.1:c.999G>T ENSP00000506735.1:p.Glu333Asp
ENST00000684024.1:c.*670G>T ENSP00000507175.1:n.*670G>T
ENST00000684254.1:c.*725G>T ENSP00000508001.1:n.*725G>T
ENST00000684310.1:c.165+204G>T ENSP00000507550.1:n.165+204G>T
ENST00000684530.1:c.261G>T ENSP00000507439.1:p.Glu87Asp
ENST00000684652.1:n.2001G>T
ENST00000340941.11:c.999G>T MANE Select ENSP00000343657.6:p.Glu333Asp
ENST00000340941.10:c.999G>T ENSP00000343657.6:p.Glu333Asp
ENST00000505435.3:n.350G>T
ENST00000509358.6:c.999G>T ENSP00000420994.2:p.Glu333Asp
ENST00000509539.2:c.324G>T ENSP00000425474.2:p.Glu108Asp
ENST00000510895.6:n.613G>T
ENST00000512218.6:c.885G>T ENSP00000423202.2:p.Glu295Asp
ENST00000629193.2:c.885G>T ENSP00000486535.1:p.Glu295Asp
NM_022132.4:c.999G>T NP_071415.1:p.Glu333Asp
XM_005248567.1:c.885G>T XP_005248624.1:p.Glu295Asp
XM_011543528.1:c.999G>T XP_011541830.1:p.Glu333Asp
XM_011543529.1:c.999G>T XP_011541831.1:p.Glu333Asp
NM_001363147.1:c.885G>T NP_001350076.1:p.Glu295Asp
XM_011543529.2:c.999G>T XP_011541831.1:p.Glu333Asp
XM_017009688.1:c.999G>T XP_016865177.1:p.Glu333Asp
XR_001742172.1:n.1039G>T
NM_022132.5:c.999G>T MANE Select NP_071415.1:p.Glu333Asp