Canonical Allele Identifier: CA3297679

Gene: MCCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71592966A>G , CM000667.2:g.71592966A>G	GRCh38
NC_000005.9:g.70888793A>G , CM000667.1:g.70888793A>G	GRCh37
NC_000005.8:g.70924549A>G	NCBI36
NG_008882.1:g.10679A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022132.5:c.170A>G MANE Select	NP_071415.1:p.His57Arg
ENST00000340941.11:c.170A>G MANE Select	ENSP00000343657.6:p.His57Arg
NM_001363147.1:c.170A>G	NP_001350076.1:p.His57Arg
NM_022132.4:c.170A>G	NP_071415.1:p.His57Arg
ENST00000340941.10:c.170A>G	ENSP00000343657.6:p.His57Arg
ENST00000505435.4:n.240A>G
ENST00000505787.8:n.2010A>G
ENST00000507169.5:n.96A>G
ENST00000509358.6:c.170A>G	ENSP00000420994.2:p.His57Arg
ENST00000509358.7:c.170A>G	ENSP00000420994.3:p.His57Arg
ENST00000510895.7:n.293A>G
ENST00000512218.6:c.170A>G	ENSP00000423202.2:p.His57Arg
ENST00000629193.2:c.170A>G	ENSP00000486535.1:p.His57Arg
ENST00000629193.3:c.170A>G	ENSP00000486535.2:p.His57Arg
ENST00000681968.1:c.-224A>G	ENSP00000508143.1:n.-224A>G
ENST00000682045.1:c.26A>G	ENSP00000507329.1:p.His9Arg
ENST00000682214.1:c.-197-3314A>G	ENSP00000507336.1:n.-197-3314A>G
ENST00000682499.1:n.991A>G
ENST00000682541.1:c.170A>G	ENSP00000507673.1:p.His57Arg
ENST00000682687.1:c.170A>G	ENSP00000507945.1:p.His57Arg
ENST00000682727.1:c.170A>G	ENSP00000507393.1:p.His57Arg
ENST00000682876.1:c.170A>G	ENSP00000508389.1:p.His57Arg
ENST00000683098.1:c.170A>G	ENSP00000507670.1:p.His57Arg
ENST00000683258.1:c.130-3314A>G	ENSP00000507448.1:n.130-3314A>G
ENST00000683339.1:c.170A>G	ENSP00000507758.1:p.His57Arg
ENST00000683403.1:c.170A>G	ENSP00000507896.1:p.His57Arg
ENST00000683429.1:c.-224A>G	ENSP00000507697.1:n.-224A>G
ENST00000683665.1:c.170A>G	ENSP00000507068.1:p.His57Arg
ENST00000683789.1:c.170A>G	ENSP00000507012.1:p.His57Arg
ENST00000683882.1:c.170A>G	ENSP00000506735.1:p.His57Arg
ENST00000684024.1:c.129+5412A>G	ENSP00000507175.1:n.129+5412A>G
ENST00000684254.1:c.130-3314A>G	ENSP00000508001.1:n.130-3314A>G
XM_005248567.1:c.170A>G	XP_005248624.1:p.His57Arg
XM_011543528.1:c.170A>G	XP_011541830.1:p.His57Arg
XM_011543529.1:c.170A>G	XP_011541831.1:p.His57Arg
XM_011543529.2:c.170A>G	XP_011541831.1:p.His57Arg
XM_017009688.1:c.170A>G	XP_016865177.1:p.His57Arg
XR_001742172.1:n.210A>G