Canonical Allele Identifier: CA444801214
Gene: MCCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70931052G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635225G>A , CM000667.2:g.71635225G>A GRCh38
NC_000005.9:g.70931052G>A , CM000667.1:g.70931052G>A GRCh37
NC_000005.8:g.70966808G>A NCBI36
NG_008882.1:g.52938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.934G>A
ENST00000505787.8:n.2818G>A
ENST00000509358.7:c.978G>A ENSP00000420994.3:p.Lys326=
ENST00000509539.3:c.240G>A ENSP00000425474.3:p.Lys80=
ENST00000510895.7:n.1101G>A
ENST00000629193.3:c.864G>A ENSP00000486535.2:p.Lys288=
ENST00000681968.1:c.471G>A ENSP00000508143.1:p.Lys157=
ENST00000682045.1:c.834G>A ENSP00000507329.1:p.Lys278=
ENST00000682214.1:c.585G>A ENSP00000507336.1:p.Lys195=
ENST00000682499.1:n.1799G>A
ENST00000682541.1:c.978G>A ENSP00000507673.1:p.Lys326=
ENST00000682687.1:c.978G>A ENSP00000507945.1:p.Lys326=
ENST00000682727.1:c.978G>A ENSP00000507393.1:p.Lys326=
ENST00000682876.1:c.1107G>A ENSP00000508389.1:p.Lys369=
ENST00000683098.1:c.803+3040G>A ENSP00000507670.1:n.803+3040G>A
ENST00000683258.1:c.*699G>A ENSP00000507448.1:n.*699G>A
ENST00000683339.1:c.762G>A ENSP00000507758.1:p.Lys254=
ENST00000683403.1:c.888G>A ENSP00000507896.1:p.Lys296=
ENST00000683429.1:c.585G>A ENSP00000507697.1:p.Lys195=
ENST00000683665.1:c.978G>A ENSP00000507068.1:p.Lys326=
ENST00000683789.1:c.864G>A ENSP00000507012.1:p.Lys288=
ENST00000683847.1:n.822G>A
ENST00000683882.1:c.978G>A ENSP00000506735.1:p.Lys326=
ENST00000684024.1:c.*649G>A ENSP00000507175.1:n.*649G>A
ENST00000684254.1:c.*704G>A ENSP00000508001.1:n.*704G>A
ENST00000684310.1:c.165+183G>A ENSP00000507550.1:n.165+183G>A
ENST00000684530.1:c.240G>A ENSP00000507439.1:p.Lys80=
ENST00000684652.1:n.1980G>A
ENST00000340941.11:c.978G>A MANE Select ENSP00000343657.6:p.Lys326=
ENST00000340941.10:c.978G>A ENSP00000343657.6:p.Lys326=
ENST00000505435.3:n.329G>A
ENST00000509358.6:c.978G>A ENSP00000420994.2:p.Lys326=
ENST00000509539.2:c.303G>A ENSP00000425474.2:p.Lys101=
ENST00000510895.6:n.592G>A
ENST00000512218.6:c.864G>A ENSP00000423202.2:p.Lys288=
ENST00000629193.2:c.864G>A ENSP00000486535.1:p.Lys288=
NM_022132.4:c.978G>A NP_071415.1:p.Lys326=
XM_005248567.1:c.864G>A XP_005248624.1:p.Lys288=
XM_011543528.1:c.978G>A XP_011541830.1:p.Lys326=
XM_011543529.1:c.978G>A XP_011541831.1:p.Lys326=
NM_001363147.1:c.864G>A NP_001350076.1:p.Lys288=
XM_011543529.2:c.978G>A XP_011541831.1:p.Lys326=
XM_017009688.1:c.978G>A XP_016865177.1:p.Lys326=
XR_001742172.1:n.1018G>A
NM_022132.5:c.978G>A MANE Select NP_071415.1:p.Lys326=