Canonical Allele Identifier: CA251970
Gene: MCCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1924
dbSNP Id: rs119103223
gnomAD v4: 5-71632185-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71632185G>C , CM000667.2:g.71632185G>C GRCh38
NC_000005.9:g.70928012G>C , CM000667.1:g.70928012G>C GRCh37
NC_000005.8:g.70963768G>C NCBI36
NG_008882.1:g.49898G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000505435.4:n.759G>C
ENST00000505787.8:n.2643G>C
ENST00000509358.7:c.803G>C ENSP00000420994.3:p.Arg268Thr
ENST00000509539.3:c.65G>C ENSP00000425474.3:p.Arg22Thr
ENST00000510895.7:n.926G>C
ENST00000629193.3:c.689G>C ENSP00000486535.2:p.Arg230Thr
ENST00000681968.1:c.296G>C ENSP00000508143.1:p.Arg99Thr
ENST00000682045.1:c.659G>C ENSP00000507329.1:p.Arg220Thr
ENST00000682214.1:c.410G>C ENSP00000507336.1:p.Arg137Thr
ENST00000682499.1:n.1624G>C
ENST00000682541.1:c.803G>C ENSP00000507673.1:p.Arg268Thr
ENST00000682687.1:c.803G>C ENSP00000507945.1:p.Arg268Thr
ENST00000682727.1:c.803G>C ENSP00000507393.1:p.Arg268Thr
ENST00000682876.1:c.932G>C ENSP00000508389.1:p.Arg311Thr
ENST00000683098.1:c.803G>C ENSP00000507670.1:p.Arg268Thr
ENST00000683258.1:c.*524G>C ENSP00000507448.1:n.*524G>C
ENST00000683339.1:c.587G>C ENSP00000507758.1:p.Arg196Thr
ENST00000683403.1:c.803G>C ENSP00000507896.1:p.Arg268Thr
ENST00000683429.1:c.410G>C ENSP00000507697.1:p.Arg137Thr
ENST00000683665.1:c.803G>C ENSP00000507068.1:p.Arg268Thr
ENST00000683789.1:c.689G>C ENSP00000507012.1:p.Arg230Thr
ENST00000683847.1:n.647G>C
ENST00000683882.1:c.803G>C ENSP00000506735.1:p.Arg268Thr
ENST00000684024.1:c.*474G>C ENSP00000507175.1:n.*474G>C
ENST00000684254.1:c.*529G>C ENSP00000508001.1:n.*529G>C
ENST00000684310.1:c.65G>C ENSP00000507550.1:p.Arg22Thr
ENST00000684530.1:c.65G>C ENSP00000507439.1:p.Arg22Thr
ENST00000340941.11:c.803G>C MANE Select ENSP00000343657.6:p.Arg268Thr
ENST00000340941.10:c.803G>C ENSP00000343657.6:p.Arg268Thr
ENST00000505435.3:n.154G>C
ENST00000505787.7:n.617G>C
ENST00000509358.6:c.803G>C ENSP00000420994.2:p.Arg268Thr
ENST00000509539.2:c.128G>C ENSP00000425474.2:p.Arg43Thr
ENST00000510895.6:n.417G>C
ENST00000512218.6:c.689G>C ENSP00000423202.2:p.Arg230Thr
ENST00000629193.2:c.689G>C ENSP00000486535.1:p.Arg230Thr
NM_022132.4:c.803G>C NP_071415.1:p.Arg268Thr
XM_005248567.1:c.689G>C XP_005248624.1:p.Arg230Thr
XM_011543528.1:c.803G>C XP_011541830.1:p.Arg268Thr
XM_011543529.1:c.803G>C XP_011541831.1:p.Arg268Thr
NM_001363147.1:c.689G>C NP_001350076.1:p.Arg230Thr
XM_011543529.2:c.803G>C XP_011541831.1:p.Arg268Thr
XM_017009688.1:c.803G>C XP_016865177.1:p.Arg268Thr
XR_001742172.1:n.843G>C
NM_022132.5:c.803G>C MANE Select NP_071415.1:p.Arg268Thr