Canonical Allele Identifier: CA444801076
Gene: MCCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70930836T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635009T>A , CM000667.2:g.71635009T>A GRCh38
NC_000005.9:g.70930836T>A , CM000667.1:g.70930836T>A GRCh37
NC_000005.8:g.70966592T>A NCBI36
NG_008882.1:g.52722T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.826T>A
ENST00000505787.8:n.2710T>A
ENST00000509358.7:c.870T>A ENSP00000420994.3:p.Val290=
ENST00000509539.3:c.132T>A ENSP00000425474.3:p.Val44=
ENST00000510895.7:n.993T>A
ENST00000629193.3:c.756T>A ENSP00000486535.2:p.Val252=
ENST00000681968.1:c.363T>A ENSP00000508143.1:p.Val121=
ENST00000682045.1:c.726T>A ENSP00000507329.1:p.Val242=
ENST00000682214.1:c.477T>A ENSP00000507336.1:p.Val159=
ENST00000682499.1:n.1691T>A
ENST00000682541.1:c.870T>A ENSP00000507673.1:p.Val290=
ENST00000682687.1:c.870T>A ENSP00000507945.1:p.Val290=
ENST00000682727.1:c.870T>A ENSP00000507393.1:p.Val290=
ENST00000682876.1:c.999T>A ENSP00000508389.1:p.Val333=
ENST00000683098.1:c.803+2824T>A ENSP00000507670.1:n.803+2824T>A
ENST00000683258.1:c.*591T>A ENSP00000507448.1:n.*591T>A
ENST00000683339.1:c.654T>A ENSP00000507758.1:p.Val218=
ENST00000683403.1:c.813+57T>A ENSP00000507896.1:n.813+57T>A
ENST00000683429.1:c.477T>A ENSP00000507697.1:p.Val159=
ENST00000683665.1:c.870T>A ENSP00000507068.1:p.Val290=
ENST00000683789.1:c.756T>A ENSP00000507012.1:p.Val252=
ENST00000683847.1:n.714T>A
ENST00000683882.1:c.870T>A ENSP00000506735.1:p.Val290=
ENST00000684024.1:c.*541T>A ENSP00000507175.1:n.*541T>A
ENST00000684254.1:c.*596T>A ENSP00000508001.1:n.*596T>A
ENST00000684310.1:c.132T>A ENSP00000507550.1:p.Val44=
ENST00000684530.1:c.132T>A ENSP00000507439.1:p.Val44=
ENST00000684652.1:n.1872T>A
ENST00000340941.11:c.870T>A MANE Select ENSP00000343657.6:p.Val290=
ENST00000340941.10:c.870T>A ENSP00000343657.6:p.Val290=
ENST00000505435.3:n.221T>A
ENST00000505787.7:n.684T>A
ENST00000509358.6:c.870T>A ENSP00000420994.2:p.Val290=
ENST00000509539.2:c.195T>A ENSP00000425474.2:p.Val65=
ENST00000510895.6:n.484T>A
ENST00000512218.6:c.756T>A ENSP00000423202.2:p.Val252=
ENST00000629193.2:c.756T>A ENSP00000486535.1:p.Val252=
NM_022132.4:c.870T>A NP_071415.1:p.Val290=
XM_005248567.1:c.756T>A XP_005248624.1:p.Val252=
XM_011543528.1:c.870T>A XP_011541830.1:p.Val290=
XM_011543529.1:c.870T>A XP_011541831.1:p.Val290=
NM_001363147.1:c.756T>A NP_001350076.1:p.Val252=
XM_011543529.2:c.870T>A XP_011541831.1:p.Val290=
XM_017009688.1:c.870T>A XP_016865177.1:p.Val290=
XR_001742172.1:n.910T>A
NM_022132.5:c.870T>A MANE Select NP_071415.1:p.Val290=