Canonical Allele Identifier: CA444801014
Gene: MCCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70930785T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71634958T>C , CM000667.2:g.71634958T>C GRCh38
NC_000005.9:g.70930785T>C , CM000667.1:g.70930785T>C GRCh37
NC_000005.8:g.70966541T>C NCBI36
NG_008882.1:g.52671T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.775T>C
ENST00000505787.8:n.2659T>C
ENST00000509358.7:c.819T>C ENSP00000420994.3:p.Ser273=
ENST00000509539.3:c.81T>C ENSP00000425474.3:p.Ser27=
ENST00000510895.7:n.942T>C
ENST00000629193.3:c.705T>C ENSP00000486535.2:p.Ser235=
ENST00000681968.1:c.312T>C ENSP00000508143.1:p.Ser104=
ENST00000682045.1:c.675T>C ENSP00000507329.1:p.Ser225=
ENST00000682214.1:c.426T>C ENSP00000507336.1:p.Ser142=
ENST00000682499.1:n.1640T>C
ENST00000682541.1:c.819T>C ENSP00000507673.1:p.Ser273=
ENST00000682687.1:c.819T>C ENSP00000507945.1:p.Ser273=
ENST00000682727.1:c.819T>C ENSP00000507393.1:p.Ser273=
ENST00000682876.1:c.948T>C ENSP00000508389.1:p.Ser316=
ENST00000683098.1:c.803+2773T>C ENSP00000507670.1:n.803+2773T>C
ENST00000683258.1:c.*540T>C ENSP00000507448.1:n.*540T>C
ENST00000683339.1:c.603T>C ENSP00000507758.1:p.Ser201=
ENST00000683403.1:c.813+6T>C ENSP00000507896.1:n.813+6T>C
ENST00000683429.1:c.426T>C ENSP00000507697.1:p.Ser142=
ENST00000683665.1:c.819T>C ENSP00000507068.1:p.Ser273=
ENST00000683789.1:c.705T>C ENSP00000507012.1:p.Ser235=
ENST00000683847.1:n.663T>C
ENST00000683882.1:c.819T>C ENSP00000506735.1:p.Ser273=
ENST00000684024.1:c.*490T>C ENSP00000507175.1:n.*490T>C
ENST00000684254.1:c.*545T>C ENSP00000508001.1:n.*545T>C
ENST00000684310.1:c.81T>C ENSP00000507550.1:p.Ser27=
ENST00000684530.1:c.81T>C ENSP00000507439.1:p.Ser27=
ENST00000684652.1:n.1821T>C
ENST00000340941.11:c.819T>C MANE Select ENSP00000343657.6:p.Ser273=
ENST00000340941.10:c.819T>C ENSP00000343657.6:p.Ser273=
ENST00000505435.3:n.170T>C
ENST00000505787.7:n.633T>C
ENST00000509358.6:c.819T>C ENSP00000420994.2:p.Ser273=
ENST00000509539.2:c.144T>C ENSP00000425474.2:p.Ser48=
ENST00000510895.6:n.433T>C
ENST00000512218.6:c.705T>C ENSP00000423202.2:p.Ser235=
ENST00000629193.2:c.705T>C ENSP00000486535.1:p.Ser235=
NM_022132.4:c.819T>C NP_071415.1:p.Ser273=
XM_005248567.1:c.705T>C XP_005248624.1:p.Ser235=
XM_011543528.1:c.819T>C XP_011541830.1:p.Ser273=
XM_011543529.1:c.819T>C XP_011541831.1:p.Ser273=
NM_001363147.1:c.705T>C NP_001350076.1:p.Ser235=
XM_011543529.2:c.819T>C XP_011541831.1:p.Ser273=
XM_017009688.1:c.819T>C XP_016865177.1:p.Ser273=
XR_001742172.1:n.859T>C
NM_022132.5:c.819T>C MANE Select NP_071415.1:p.Ser273=