Canonical Allele Identifier: CA359986922
Gene: MCCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635011T>G , CM000667.2:g.71635011T>G GRCh38
NC_000005.9:g.70930838T>G , CM000667.1:g.70930838T>G GRCh37
NC_000005.8:g.70966594T>G NCBI36
NG_008882.1:g.52724T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.828T>G
ENST00000505787.8:n.2712T>G
ENST00000509358.7:c.872T>G ENSP00000420994.3:p.Val291Gly
ENST00000509539.3:c.134T>G ENSP00000425474.3:p.Val45Gly
ENST00000510895.7:n.995T>G
ENST00000629193.3:c.758T>G ENSP00000486535.2:p.Val253Gly
ENST00000681968.1:c.365T>G ENSP00000508143.1:p.Val122Gly
ENST00000682045.1:c.728T>G ENSP00000507329.1:p.Val243Gly
ENST00000682214.1:c.479T>G ENSP00000507336.1:p.Val160Gly
ENST00000682499.1:n.1693T>G
ENST00000682541.1:c.872T>G ENSP00000507673.1:p.Val291Gly
ENST00000682687.1:c.872T>G ENSP00000507945.1:p.Val291Gly
ENST00000682727.1:c.872T>G ENSP00000507393.1:p.Val291Gly
ENST00000682876.1:c.1001T>G ENSP00000508389.1:p.Val334Gly
ENST00000683098.1:c.803+2826T>G ENSP00000507670.1:n.803+2826T>G
ENST00000683258.1:c.*593T>G ENSP00000507448.1:n.*593T>G
ENST00000683339.1:c.656T>G ENSP00000507758.1:p.Val219Gly
ENST00000683403.1:c.813+59T>G ENSP00000507896.1:n.813+59T>G
ENST00000683429.1:c.479T>G ENSP00000507697.1:p.Val160Gly
ENST00000683665.1:c.872T>G ENSP00000507068.1:p.Val291Gly
ENST00000683789.1:c.758T>G ENSP00000507012.1:p.Val253Gly
ENST00000683847.1:n.716T>G
ENST00000683882.1:c.872T>G ENSP00000506735.1:p.Val291Gly
ENST00000684024.1:c.*543T>G ENSP00000507175.1:n.*543T>G
ENST00000684254.1:c.*598T>G ENSP00000508001.1:n.*598T>G
ENST00000684310.1:c.134T>G ENSP00000507550.1:p.Val45Gly
ENST00000684530.1:c.134T>G ENSP00000507439.1:p.Val45Gly
ENST00000684652.1:n.1874T>G
ENST00000340941.11:c.872T>G MANE Select ENSP00000343657.6:p.Val291Gly
ENST00000340941.10:c.872T>G ENSP00000343657.6:p.Val291Gly
ENST00000505435.3:n.223T>G
ENST00000505787.7:n.686T>G
ENST00000509358.6:c.872T>G ENSP00000420994.2:p.Val291Gly
ENST00000509539.2:c.197T>G ENSP00000425474.2:p.Val66Gly
ENST00000510895.6:n.486T>G
ENST00000512218.6:c.758T>G ENSP00000423202.2:p.Val253Gly
ENST00000629193.2:c.758T>G ENSP00000486535.1:p.Val253Gly
NM_022132.4:c.872T>G NP_071415.1:p.Val291Gly
XM_005248567.1:c.758T>G XP_005248624.1:p.Val253Gly
XM_011543528.1:c.872T>G XP_011541830.1:p.Val291Gly
XM_011543529.1:c.872T>G XP_011541831.1:p.Val291Gly
NM_001363147.1:c.758T>G NP_001350076.1:p.Val253Gly
XM_011543529.2:c.872T>G XP_011541831.1:p.Val291Gly
XM_017009688.1:c.872T>G XP_016865177.1:p.Val291Gly
XR_001742172.1:n.912T>G
NM_022132.5:c.872T>G MANE Select NP_071415.1:p.Val291Gly