Canonical Allele Identifier: CA360006071
Community Standard Title: NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly)
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71596333A>G , CM000667.2:g.71596333A>G GRCh38
NC_000005.9:g.70892160A>G , CM000667.1:g.70892160A>G GRCh37
NC_000005.8:g.70927916A>G NCBI36
NG_008882.1:g.14046A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022132.5:c.250A>G MANE Select NP_071415.1:p.Arg84Gly
ENST00000340941.11:c.250A>G MANE Select ENSP00000343657.6:p.Arg84Gly
NM_001363147.1:c.250A>G NP_001350076.1:p.Arg84Gly
NM_022132.4:c.250A>G NP_071415.1:p.Arg84Gly
ENST00000340941.10:c.250A>G ENSP00000343657.6:p.Arg84Gly
ENST00000505435.4:n.320A>G
ENST00000505787.7:n.64A>G
ENST00000505787.8:n.2090A>G
ENST00000507169.5:n.176A>G
ENST00000509358.6:c.250A>G ENSP00000420994.2:p.Arg84Gly
ENST00000509358.7:c.250A>G ENSP00000420994.3:p.Arg84Gly
ENST00000510895.7:n.373A>G
ENST00000512218.6:c.250A>G ENSP00000423202.2:p.Arg84Gly
ENST00000629193.2:c.250A>G ENSP00000486535.1:p.Arg84Gly
ENST00000629193.3:c.250A>G ENSP00000486535.2:p.Arg84Gly
ENST00000681968.1:c.-144A>G ENSP00000508143.1:n.-144A>G
ENST00000682045.1:c.106A>G ENSP00000507329.1:p.Arg36Gly
ENST00000682214.1:c.-144A>G ENSP00000507336.1:n.-144A>G
ENST00000682499.1:n.1071A>G
ENST00000682541.1:c.250A>G ENSP00000507673.1:p.Arg84Gly
ENST00000682687.1:c.250A>G ENSP00000507945.1:p.Arg84Gly
ENST00000682727.1:c.250A>G ENSP00000507393.1:p.Arg84Gly
ENST00000682876.1:c.250A>G ENSP00000508389.1:p.Arg84Gly
ENST00000683098.1:c.250A>G ENSP00000507670.1:p.Arg84Gly
ENST00000683258.1:c.183A>G ENSP00000507448.1:p.Pro61=
ENST00000683339.1:c.250A>G ENSP00000507758.1:p.Arg84Gly
ENST00000683403.1:c.250A>G ENSP00000507896.1:p.Arg84Gly
ENST00000683429.1:c.-144A>G ENSP00000507697.1:n.-144A>G
ENST00000683665.1:c.250A>G ENSP00000507068.1:p.Arg84Gly
ENST00000683789.1:c.250A>G ENSP00000507012.1:p.Arg84Gly
ENST00000683882.1:c.250A>G ENSP00000506735.1:p.Arg84Gly
ENST00000684024.1:c.130-3326A>G ENSP00000507175.1:n.130-3326A>G
ENST00000684254.1:c.183A>G ENSP00000508001.1:p.Pro61=
XM_005248567.1:c.250A>G XP_005248624.1:p.Arg84Gly
XM_011543528.1:c.250A>G XP_011541830.1:p.Arg84Gly
XM_011543529.1:c.250A>G XP_011541831.1:p.Arg84Gly
XM_011543529.2:c.250A>G XP_011541831.1:p.Arg84Gly
XM_017009688.1:c.250A>G XP_016865177.1:p.Arg84Gly
XR_001742172.1:n.290A>G