Canonical Allele Identifier: CA1554377493
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71602594_71602595delinsGA , CM000667.2:g.71602594_71602595delinsGA GRCh38
NC_000005.9:g.70898421_70898422delinsGA , CM000667.1:g.70898421_70898422delinsGA GRCh37
NC_000005.8:g.70934177_70934178delinsGA NCBI36
NG_008882.1:g.20307_20308delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000505435.4:n.542_543delinsGA
ENST00000505787.8:n.2312_2313delinsGA
ENST00000509358.7:c.472_473delinsGA ENSP00000420994.3:p.Glu158=
ENST00000510895.7:n.595_596delinsGA
ENST00000629193.3:c.472_473delinsGA ENSP00000486535.2:p.Glu158=
ENST00000681968.1:c.79_80delinsGA ENSP00000508143.1:p.Glu27=
ENST00000682045.1:c.328_329delinsGA ENSP00000507329.1:p.Glu110=
ENST00000682214.1:c.79_80delinsGA ENSP00000507336.1:p.Glu27=
ENST00000682499.1:n.1293_1294delinsGA
ENST00000682541.1:c.472_473delinsGA ENSP00000507673.1:p.Glu158=
ENST00000682687.1:c.472_473delinsGA ENSP00000507945.1:p.Glu158=
ENST00000682727.1:c.472_473delinsGA ENSP00000507393.1:p.Glu158=
ENST00000682876.1:c.472_473delinsGA ENSP00000508389.1:p.Glu158=
ENST00000683098.1:c.472_473delinsGA ENSP00000507670.1:p.Glu158=
ENST00000683258.1:c.*193_*194delinsGA ENSP00000507448.1:n.*193_*194delinsGA
ENST00000683339.1:c.370_371delinsGA ENSP00000507758.1:p.Glu124=
ENST00000683403.1:c.472_473delinsGA ENSP00000507896.1:p.Glu158=
ENST00000683429.1:c.79_80delinsGA ENSP00000507697.1:p.Glu27=
ENST00000683665.1:c.472_473delinsGA ENSP00000507068.1:p.Glu158=
ENST00000683789.1:c.472_473delinsGA ENSP00000507012.1:p.Glu158=
ENST00000683882.1:c.472_473delinsGA ENSP00000506735.1:p.Glu158=
ENST00000684024.1:c.*143_*144delinsGA ENSP00000507175.1:n.*143_*144delinsGA
ENST00000684254.1:c.*198_*199delinsGA ENSP00000508001.1:n.*198_*199delinsGA
ENST00000340941.11:c.472_473delinsGA MANE Select ENSP00000343657.6:p.Glu158=
ENST00000340941.10:c.472_473delinsGA ENSP00000343657.6:p.Glu158=
ENST00000505787.7:n.286_287delinsGA
ENST00000507169.5:n.398_399delinsGA
ENST00000509358.6:c.472_473delinsGA ENSP00000420994.2:p.Glu158=
ENST00000510895.6:n.86_87delinsGA
ENST00000512218.6:c.472_473delinsGA ENSP00000423202.2:p.Glu158=
ENST00000629193.2:c.472_473delinsGA ENSP00000486535.1:p.Glu158=
NM_022132.4:c.472_473delinsGA NP_071415.1:p.Glu158=
XM_005248567.1:c.472_473delinsGA XP_005248624.1:p.Glu158=
XM_011543528.1:c.472_473delinsGA XP_011541830.1:p.Glu158=
XM_011543529.1:c.472_473delinsGA XP_011541831.1:p.Glu158=
NM_001363147.1:c.472_473delinsGA NP_001350076.1:p.Glu158=
XM_011543529.2:c.472_473delinsGA XP_011541831.1:p.Glu158=
XM_017009688.1:c.472_473delinsGA XP_016865177.1:p.Glu158=
XR_001742172.1:n.512_513delinsGA
NM_022132.5:c.472_473delinsGA MANE Select NP_071415.1:p.Glu158=