Canonical Allele Identifier: CA251968
Gene: MCCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1922
ClinVar RCV Id: RCV000001999
dbSNP Id: rs119103221
gnomAD v2: 5-70931003-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635176C>G , CM000667.2:g.71635176C>G GRCh38
NC_000005.9:g.70931003C>G , CM000667.1:g.70931003C>G GRCh37
NC_000005.8:g.70966759C>G NCBI36
NG_008882.1:g.52889C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000505435.4:n.885C>G
ENST00000505787.8:n.2769C>G
ENST00000509358.7:c.929C>G ENSP00000420994.3:p.Pro310Arg
ENST00000509539.3:c.191C>G ENSP00000425474.3:p.Pro64Arg
ENST00000510895.7:n.1052C>G
ENST00000629193.3:c.815C>G ENSP00000486535.2:p.Pro272Arg
ENST00000681968.1:c.422C>G ENSP00000508143.1:p.Pro141Arg
ENST00000682045.1:c.785C>G ENSP00000507329.1:p.Pro262Arg
ENST00000682214.1:c.536C>G ENSP00000507336.1:p.Pro179Arg
ENST00000682499.1:n.1750C>G
ENST00000682541.1:c.929C>G ENSP00000507673.1:p.Pro310Arg
ENST00000682687.1:c.929C>G ENSP00000507945.1:p.Pro310Arg
ENST00000682727.1:c.929C>G ENSP00000507393.1:p.Pro310Arg
ENST00000682876.1:c.1058C>G ENSP00000508389.1:p.Pro353Arg
ENST00000683098.1:c.803+2991C>G ENSP00000507670.1:n.803+2991C>G
ENST00000683258.1:c.*650C>G ENSP00000507448.1:n.*650C>G
ENST00000683339.1:c.713C>G ENSP00000507758.1:p.Pro238Arg
ENST00000683403.1:c.839C>G ENSP00000507896.1:p.Pro280Arg
ENST00000683429.1:c.536C>G ENSP00000507697.1:p.Pro179Arg
ENST00000683665.1:c.929C>G ENSP00000507068.1:p.Pro310Arg
ENST00000683789.1:c.815C>G ENSP00000507012.1:p.Pro272Arg
ENST00000683847.1:n.773C>G
ENST00000683882.1:c.929C>G ENSP00000506735.1:p.Pro310Arg
ENST00000684024.1:c.*600C>G ENSP00000507175.1:n.*600C>G
ENST00000684254.1:c.*655C>G ENSP00000508001.1:n.*655C>G
ENST00000684310.1:c.165+134C>G ENSP00000507550.1:n.165+134C>G
ENST00000684530.1:c.191C>G ENSP00000507439.1:p.Pro64Arg
ENST00000684652.1:n.1931C>G
ENST00000340941.11:c.929C>G MANE Select ENSP00000343657.6:p.Pro310Arg
ENST00000340941.10:c.929C>G ENSP00000343657.6:p.Pro310Arg
ENST00000505435.3:n.280C>G
ENST00000509358.6:c.929C>G ENSP00000420994.2:p.Pro310Arg
ENST00000509539.2:c.254C>G ENSP00000425474.2:p.Pro85Arg
ENST00000510895.6:n.543C>G
ENST00000512218.6:c.815C>G ENSP00000423202.2:p.Pro272Arg
ENST00000629193.2:c.815C>G ENSP00000486535.1:p.Pro272Arg
NM_022132.4:c.929C>G NP_071415.1:p.Pro310Arg
XM_005248567.1:c.815C>G XP_005248624.1:p.Pro272Arg
XM_011543528.1:c.929C>G XP_011541830.1:p.Pro310Arg
XM_011543529.1:c.929C>G XP_011541831.1:p.Pro310Arg
NM_001363147.1:c.815C>G NP_001350076.1:p.Pro272Arg
XM_011543529.2:c.929C>G XP_011541831.1:p.Pro310Arg
XM_017009688.1:c.929C>G XP_016865177.1:p.Pro310Arg
XR_001742172.1:n.969C>G
NM_022132.5:c.929C>G MANE Select NP_071415.1:p.Pro310Arg