Canonical Allele Identifier: CA444801007
Gene: MCCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70930779A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71634952A>C , CM000667.2:g.71634952A>C GRCh38
NC_000005.9:g.70930779A>C , CM000667.1:g.70930779A>C GRCh37
NC_000005.8:g.70966535A>C NCBI36
NG_008882.1:g.52665A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.769A>C
ENST00000505787.8:n.2653A>C
ENST00000509358.7:c.813A>C ENSP00000420994.3:p.Gly271=
ENST00000509539.3:c.75A>C ENSP00000425474.3:p.Gly25=
ENST00000510895.7:n.936A>C
ENST00000629193.3:c.699A>C ENSP00000486535.2:p.Gly233=
ENST00000681968.1:c.306A>C ENSP00000508143.1:p.Gly102=
ENST00000682045.1:c.669A>C ENSP00000507329.1:p.Gly223=
ENST00000682214.1:c.420A>C ENSP00000507336.1:p.Gly140=
ENST00000682499.1:n.1634A>C
ENST00000682541.1:c.813A>C ENSP00000507673.1:p.Gly271=
ENST00000682687.1:c.813A>C ENSP00000507945.1:p.Gly271=
ENST00000682727.1:c.813A>C ENSP00000507393.1:p.Gly271=
ENST00000682876.1:c.942A>C ENSP00000508389.1:p.Gly314=
ENST00000683098.1:c.803+2767A>C ENSP00000507670.1:n.803+2767A>C
ENST00000683258.1:c.*534A>C ENSP00000507448.1:n.*534A>C
ENST00000683339.1:c.597A>C ENSP00000507758.1:p.Gly199=
ENST00000683403.1:c.813A>C ENSP00000507896.1:p.Gly271=
ENST00000683429.1:c.420A>C ENSP00000507697.1:p.Gly140=
ENST00000683665.1:c.813A>C ENSP00000507068.1:p.Gly271=
ENST00000683789.1:c.699A>C ENSP00000507012.1:p.Gly233=
ENST00000683847.1:n.657A>C
ENST00000683882.1:c.813A>C ENSP00000506735.1:p.Gly271=
ENST00000684024.1:c.*484A>C ENSP00000507175.1:n.*484A>C
ENST00000684254.1:c.*539A>C ENSP00000508001.1:n.*539A>C
ENST00000684310.1:c.75A>C ENSP00000507550.1:p.Gly25=
ENST00000684530.1:c.75A>C ENSP00000507439.1:p.Gly25=
ENST00000684652.1:n.1815A>C
ENST00000340941.11:c.813A>C MANE Select ENSP00000343657.6:p.Gly271=
ENST00000340941.10:c.813A>C ENSP00000343657.6:p.Gly271=
ENST00000505435.3:n.164A>C
ENST00000505787.7:n.627A>C
ENST00000509358.6:c.813A>C ENSP00000420994.2:p.Gly271=
ENST00000509539.2:c.138A>C ENSP00000425474.2:p.Gly46=
ENST00000510895.6:n.427A>C
ENST00000512218.6:c.699A>C ENSP00000423202.2:p.Gly233=
ENST00000629193.2:c.699A>C ENSP00000486535.1:p.Gly233=
NM_022132.4:c.813A>C NP_071415.1:p.Gly271=
XM_005248567.1:c.699A>C XP_005248624.1:p.Gly233=
XM_011543528.1:c.813A>C XP_011541830.1:p.Gly271=
XM_011543529.1:c.813A>C XP_011541831.1:p.Gly271=
NM_001363147.1:c.699A>C NP_001350076.1:p.Gly233=
XM_011543529.2:c.813A>C XP_011541831.1:p.Gly271=
XM_017009688.1:c.813A>C XP_016865177.1:p.Gly271=
XR_001742172.1:n.853A>C
NM_022132.5:c.813A>C MANE Select NP_071415.1:p.Gly271=