Canonical Allele Identifier: CA444801139
Gene: MCCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70930983C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635156C>G , CM000667.2:g.71635156C>G GRCh38
NC_000005.9:g.70930983C>G , CM000667.1:g.70930983C>G GRCh37
NC_000005.8:g.70966739C>G NCBI36
NG_008882.1:g.52869C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.865C>G
ENST00000505787.8:n.2749C>G
ENST00000509358.7:c.909C>G ENSP00000420994.3:p.Thr303=
ENST00000509539.3:c.171C>G ENSP00000425474.3:p.Thr57=
ENST00000510895.7:n.1032C>G
ENST00000629193.3:c.795C>G ENSP00000486535.2:p.Thr265=
ENST00000681968.1:c.402C>G ENSP00000508143.1:p.Thr134=
ENST00000682045.1:c.765C>G ENSP00000507329.1:p.Thr255=
ENST00000682214.1:c.516C>G ENSP00000507336.1:p.Thr172=
ENST00000682499.1:n.1730C>G
ENST00000682541.1:c.909C>G ENSP00000507673.1:p.Thr303=
ENST00000682687.1:c.909C>G ENSP00000507945.1:p.Thr303=
ENST00000682727.1:c.909C>G ENSP00000507393.1:p.Thr303=
ENST00000682876.1:c.1038C>G ENSP00000508389.1:p.Thr346=
ENST00000683098.1:c.803+2971C>G ENSP00000507670.1:n.803+2971C>G
ENST00000683258.1:c.*630C>G ENSP00000507448.1:n.*630C>G
ENST00000683339.1:c.693C>G ENSP00000507758.1:p.Thr231=
ENST00000683403.1:c.819C>G ENSP00000507896.1:p.Thr273=
ENST00000683429.1:c.516C>G ENSP00000507697.1:p.Thr172=
ENST00000683665.1:c.909C>G ENSP00000507068.1:p.Thr303=
ENST00000683789.1:c.795C>G ENSP00000507012.1:p.Thr265=
ENST00000683847.1:n.753C>G
ENST00000683882.1:c.909C>G ENSP00000506735.1:p.Thr303=
ENST00000684024.1:c.*580C>G ENSP00000507175.1:n.*580C>G
ENST00000684254.1:c.*635C>G ENSP00000508001.1:n.*635C>G
ENST00000684310.1:c.165+114C>G ENSP00000507550.1:n.165+114C>G
ENST00000684530.1:c.171C>G ENSP00000507439.1:p.Thr57=
ENST00000684652.1:n.1911C>G
ENST00000340941.11:c.909C>G MANE Select ENSP00000343657.6:p.Thr303=
ENST00000340941.10:c.909C>G ENSP00000343657.6:p.Thr303=
ENST00000505435.3:n.260C>G
ENST00000509358.6:c.909C>G ENSP00000420994.2:p.Thr303=
ENST00000509539.2:c.234C>G ENSP00000425474.2:p.Thr78=
ENST00000510895.6:n.523C>G
ENST00000512218.6:c.795C>G ENSP00000423202.2:p.Thr265=
ENST00000629193.2:c.795C>G ENSP00000486535.1:p.Thr265=
NM_022132.4:c.909C>G NP_071415.1:p.Thr303=
XM_005248567.1:c.795C>G XP_005248624.1:p.Thr265=
XM_011543528.1:c.909C>G XP_011541830.1:p.Thr303=
XM_011543529.1:c.909C>G XP_011541831.1:p.Thr303=
NM_001363147.1:c.795C>G NP_001350076.1:p.Thr265=
XM_011543529.2:c.909C>G XP_011541831.1:p.Thr303=
XM_017009688.1:c.909C>G XP_016865177.1:p.Thr303=
XR_001742172.1:n.949C>G
NM_022132.5:c.909C>G MANE Select NP_071415.1:p.Thr303=