Canonical Allele Identifier: CA444801104
Gene: MCCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70930857G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635030G>A , CM000667.2:g.71635030G>A GRCh38
NC_000005.9:g.70930857G>A , CM000667.1:g.70930857G>A GRCh37
NC_000005.8:g.70966613G>A NCBI36
NG_008882.1:g.52743G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.847G>A
ENST00000505787.8:n.2731G>A
ENST00000509358.7:c.891G>A ENSP00000420994.3:p.Gln297=
ENST00000509539.3:c.153G>A ENSP00000425474.3:p.Gln51=
ENST00000510895.7:n.1014G>A
ENST00000629193.3:c.777G>A ENSP00000486535.2:p.Gln259=
ENST00000681968.1:c.384G>A ENSP00000508143.1:p.Gln128=
ENST00000682045.1:c.747G>A ENSP00000507329.1:p.Gln249=
ENST00000682214.1:c.498G>A ENSP00000507336.1:p.Gln166=
ENST00000682499.1:n.1712G>A
ENST00000682541.1:c.891G>A ENSP00000507673.1:p.Gln297=
ENST00000682687.1:c.891G>A ENSP00000507945.1:p.Gln297=
ENST00000682727.1:c.891G>A ENSP00000507393.1:p.Gln297=
ENST00000682876.1:c.1020G>A ENSP00000508389.1:p.Gln340=
ENST00000683098.1:c.803+2845G>A ENSP00000507670.1:n.803+2845G>A
ENST00000683258.1:c.*612G>A ENSP00000507448.1:n.*612G>A
ENST00000683339.1:c.675G>A ENSP00000507758.1:p.Gln225=
ENST00000683403.1:c.813+78G>A ENSP00000507896.1:n.813+78G>A
ENST00000683429.1:c.498G>A ENSP00000507697.1:p.Gln166=
ENST00000683665.1:c.891G>A ENSP00000507068.1:p.Gln297=
ENST00000683789.1:c.777G>A ENSP00000507012.1:p.Gln259=
ENST00000683847.1:n.735G>A
ENST00000683882.1:c.891G>A ENSP00000506735.1:p.Gln297=
ENST00000684024.1:c.*562G>A ENSP00000507175.1:n.*562G>A
ENST00000684254.1:c.*617G>A ENSP00000508001.1:n.*617G>A
ENST00000684310.1:c.153G>A ENSP00000507550.1:p.Gln51=
ENST00000684530.1:c.153G>A ENSP00000507439.1:p.Gln51=
ENST00000684652.1:n.1893G>A
ENST00000340941.11:c.891G>A MANE Select ENSP00000343657.6:p.Gln297=
ENST00000340941.10:c.891G>A ENSP00000343657.6:p.Gln297=
ENST00000505435.3:n.242G>A
ENST00000505787.7:n.705G>A
ENST00000509358.6:c.891G>A ENSP00000420994.2:p.Gln297=
ENST00000509539.2:c.216G>A ENSP00000425474.2:p.Gln72=
ENST00000510895.6:n.505G>A
ENST00000512218.6:c.777G>A ENSP00000423202.2:p.Gln259=
ENST00000629193.2:c.777G>A ENSP00000486535.1:p.Gln259=
NM_022132.4:c.891G>A NP_071415.1:p.Gln297=
XM_005248567.1:c.777G>A XP_005248624.1:p.Gln259=
XM_011543528.1:c.891G>A XP_011541830.1:p.Gln297=
XM_011543529.1:c.891G>A XP_011541831.1:p.Gln297=
NM_001363147.1:c.777G>A NP_001350076.1:p.Gln259=
XM_011543529.2:c.891G>A XP_011541831.1:p.Gln297=
XM_017009688.1:c.891G>A XP_016865177.1:p.Gln297=
XR_001742172.1:n.931G>A
NM_022132.5:c.891G>A MANE Select NP_071415.1:p.Gln297=