Canonical Allele Identifier: CA444801115
Gene: MCCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70930869T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635042T>C , CM000667.2:g.71635042T>C GRCh38
NC_000005.9:g.70930869T>C , CM000667.1:g.70930869T>C GRCh37
NC_000005.8:g.70966625T>C NCBI36
NG_008882.1:g.52755T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.859T>C
ENST00000505787.8:n.2743T>C
ENST00000509358.7:c.903T>C ENSP00000420994.3:p.Asp301=
ENST00000509539.3:c.165T>C ENSP00000425474.3:p.Asp55=
ENST00000510895.7:n.1026T>C
ENST00000629193.3:c.789T>C ENSP00000486535.2:p.Asp263=
ENST00000681968.1:c.396T>C ENSP00000508143.1:p.Asp132=
ENST00000682045.1:c.759T>C ENSP00000507329.1:p.Asp253=
ENST00000682214.1:c.510T>C ENSP00000507336.1:p.Asp170=
ENST00000682499.1:n.1724T>C
ENST00000682541.1:c.903T>C ENSP00000507673.1:p.Asp301=
ENST00000682687.1:c.903T>C ENSP00000507945.1:p.Asp301=
ENST00000682727.1:c.903T>C ENSP00000507393.1:p.Asp301=
ENST00000682876.1:c.1032T>C ENSP00000508389.1:p.Asp344=
ENST00000683098.1:c.803+2857T>C ENSP00000507670.1:n.803+2857T>C
ENST00000683258.1:c.*624T>C ENSP00000507448.1:n.*624T>C
ENST00000683339.1:c.687T>C ENSP00000507758.1:p.Asp229=
ENST00000683403.1:c.813+90T>C ENSP00000507896.1:n.813+90T>C
ENST00000683429.1:c.510T>C ENSP00000507697.1:p.Asp170=
ENST00000683665.1:c.903T>C ENSP00000507068.1:p.Asp301=
ENST00000683789.1:c.789T>C ENSP00000507012.1:p.Asp263=
ENST00000683847.1:n.747T>C
ENST00000683882.1:c.903T>C ENSP00000506735.1:p.Asp301=
ENST00000684024.1:c.*574T>C ENSP00000507175.1:n.*574T>C
ENST00000684254.1:c.*629T>C ENSP00000508001.1:n.*629T>C
ENST00000684310.1:c.165T>C ENSP00000507550.1:p.Asp55=
ENST00000684530.1:c.165T>C ENSP00000507439.1:p.Asp55=
ENST00000684652.1:n.1905T>C
ENST00000340941.11:c.903T>C MANE Select ENSP00000343657.6:p.Asp301=
ENST00000340941.10:c.903T>C ENSP00000343657.6:p.Asp301=
ENST00000505435.3:n.254T>C
ENST00000505787.7:n.717T>C
ENST00000509358.6:c.903T>C ENSP00000420994.2:p.Asp301=
ENST00000509539.2:c.228T>C ENSP00000425474.2:p.Asp76=
ENST00000510895.6:n.517T>C
ENST00000512218.6:c.789T>C ENSP00000423202.2:p.Asp263=
ENST00000629193.2:c.789T>C ENSP00000486535.1:p.Asp263=
NM_022132.4:c.903T>C NP_071415.1:p.Asp301=
XM_005248567.1:c.789T>C XP_005248624.1:p.Asp263=
XM_011543528.1:c.903T>C XP_011541830.1:p.Asp301=
XM_011543529.1:c.903T>C XP_011541831.1:p.Asp301=
NM_001363147.1:c.789T>C NP_001350076.1:p.Asp263=
XM_011543529.2:c.903T>C XP_011541831.1:p.Asp301=
XM_017009688.1:c.903T>C XP_016865177.1:p.Asp301=
XR_001742172.1:n.943T>C
NM_022132.5:c.903T>C MANE Select NP_071415.1:p.Asp301=