Canonical Allele Identifier: CA444801241
Gene: MCCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70931070A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635243A>T , CM000667.2:g.71635243A>T GRCh38
NC_000005.9:g.70931070A>T , CM000667.1:g.70931070A>T GRCh37
NC_000005.8:g.70966826A>T NCBI36
NG_008882.1:g.52956A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.952A>T
ENST00000505787.8:n.2836A>T
ENST00000509358.7:c.996A>T ENSP00000420994.3:p.Arg332=
ENST00000509539.3:c.258A>T ENSP00000425474.3:p.Arg86=
ENST00000510895.7:n.1119A>T
ENST00000629193.3:c.882A>T ENSP00000486535.2:p.Arg294=
ENST00000681968.1:c.489A>T ENSP00000508143.1:p.Arg163=
ENST00000682045.1:c.852A>T ENSP00000507329.1:p.Arg284=
ENST00000682214.1:c.603A>T ENSP00000507336.1:p.Arg201=
ENST00000682499.1:n.1817A>T
ENST00000682541.1:c.996A>T ENSP00000507673.1:p.Arg332=
ENST00000682687.1:c.996A>T ENSP00000507945.1:p.Arg332=
ENST00000682727.1:c.996A>T ENSP00000507393.1:p.Arg332=
ENST00000682876.1:c.1125A>T ENSP00000508389.1:p.Arg375=
ENST00000683098.1:c.803+3058A>T ENSP00000507670.1:n.803+3058A>T
ENST00000683258.1:c.*717A>T ENSP00000507448.1:n.*717A>T
ENST00000683339.1:c.780A>T ENSP00000507758.1:p.Arg260=
ENST00000683403.1:c.906A>T ENSP00000507896.1:p.Arg302=
ENST00000683429.1:c.603A>T ENSP00000507697.1:p.Arg201=
ENST00000683665.1:c.996A>T ENSP00000507068.1:p.Arg332=
ENST00000683789.1:c.882A>T ENSP00000507012.1:p.Arg294=
ENST00000683847.1:n.840A>T
ENST00000683882.1:c.996A>T ENSP00000506735.1:p.Arg332=
ENST00000684024.1:c.*667A>T ENSP00000507175.1:n.*667A>T
ENST00000684254.1:c.*722A>T ENSP00000508001.1:n.*722A>T
ENST00000684310.1:c.165+201A>T ENSP00000507550.1:n.165+201A>T
ENST00000684530.1:c.258A>T ENSP00000507439.1:p.Arg86=
ENST00000684652.1:n.1998A>T
ENST00000340941.11:c.996A>T MANE Select ENSP00000343657.6:p.Arg332=
ENST00000340941.10:c.996A>T ENSP00000343657.6:p.Arg332=
ENST00000505435.3:n.347A>T
ENST00000509358.6:c.996A>T ENSP00000420994.2:p.Arg332=
ENST00000509539.2:c.321A>T ENSP00000425474.2:p.Arg107=
ENST00000510895.6:n.610A>T
ENST00000512218.6:c.882A>T ENSP00000423202.2:p.Arg294=
ENST00000629193.2:c.882A>T ENSP00000486535.1:p.Arg294=
NM_022132.4:c.996A>T NP_071415.1:p.Arg332=
XM_005248567.1:c.882A>T XP_005248624.1:p.Arg294=
XM_011543528.1:c.996A>T XP_011541830.1:p.Arg332=
XM_011543529.1:c.996A>T XP_011541831.1:p.Arg332=
NM_001363147.1:c.882A>T NP_001350076.1:p.Arg294=
XM_011543529.2:c.996A>T XP_011541831.1:p.Arg332=
XM_017009688.1:c.996A>T XP_016865177.1:p.Arg332=
XR_001742172.1:n.1036A>T
NM_022132.5:c.996A>T MANE Select NP_071415.1:p.Arg332=