Canonical Allele Identifier: CA359987509

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930998A>T (hg19) ; chr5:g.71635171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635171A>T , CM000667.2:g.71635171A>T	GRCh38
NC_000005.9:g.70930998A>T , CM000667.1:g.70930998A>T	GRCh37
NC_000005.8:g.70966754A>T	NCBI36
NG_008882.1:g.52884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.880A>T
ENST00000505787.8:n.2764A>T
ENST00000509358.7:c.924A>T	ENSP00000420994.3:p.Glu308Asp
ENST00000509539.3:c.186A>T	ENSP00000425474.3:p.Glu62Asp
ENST00000510895.7:n.1047A>T
ENST00000629193.3:c.810A>T	ENSP00000486535.2:p.Glu270Asp
ENST00000681968.1:c.417A>T	ENSP00000508143.1:p.Glu139Asp
ENST00000682045.1:c.780A>T	ENSP00000507329.1:p.Glu260Asp
ENST00000682214.1:c.531A>T	ENSP00000507336.1:p.Glu177Asp
ENST00000682499.1:n.1745A>T
ENST00000682541.1:c.924A>T	ENSP00000507673.1:p.Glu308Asp
ENST00000682687.1:c.924A>T	ENSP00000507945.1:p.Glu308Asp
ENST00000682727.1:c.924A>T	ENSP00000507393.1:p.Glu308Asp
ENST00000682876.1:c.1053A>T	ENSP00000508389.1:p.Glu351Asp
ENST00000683098.1:c.803+2986A>T	ENSP00000507670.1:n.803+2986A>T
ENST00000683258.1:c.*645A>T	ENSP00000507448.1:n.*645A>T
ENST00000683339.1:c.708A>T	ENSP00000507758.1:p.Glu236Asp
ENST00000683403.1:c.834A>T	ENSP00000507896.1:p.Glu278Asp
ENST00000683429.1:c.531A>T	ENSP00000507697.1:p.Glu177Asp
ENST00000683665.1:c.924A>T	ENSP00000507068.1:p.Glu308Asp
ENST00000683789.1:c.810A>T	ENSP00000507012.1:p.Glu270Asp
ENST00000683847.1:n.768A>T
ENST00000683882.1:c.924A>T	ENSP00000506735.1:p.Glu308Asp
ENST00000684024.1:c.*595A>T	ENSP00000507175.1:n.*595A>T
ENST00000684254.1:c.*650A>T	ENSP00000508001.1:n.*650A>T
ENST00000684310.1:c.165+129A>T	ENSP00000507550.1:n.165+129A>T
ENST00000684530.1:c.186A>T	ENSP00000507439.1:p.Glu62Asp
ENST00000684652.1:n.1926A>T
ENST00000340941.11:c.924A>T MANE Select	ENSP00000343657.6:p.Glu308Asp
ENST00000340941.10:c.924A>T	ENSP00000343657.6:p.Glu308Asp
ENST00000505435.3:n.275A>T
ENST00000509358.6:c.924A>T	ENSP00000420994.2:p.Glu308Asp
ENST00000509539.2:c.249A>T	ENSP00000425474.2:p.Glu83Asp
ENST00000510895.6:n.538A>T
ENST00000512218.6:c.810A>T	ENSP00000423202.2:p.Glu270Asp
ENST00000629193.2:c.810A>T	ENSP00000486535.1:p.Glu270Asp
NM_022132.4:c.924A>T	NP_071415.1:p.Glu308Asp
XM_005248567.1:c.810A>T	XP_005248624.1:p.Glu270Asp
XM_011543528.1:c.924A>T	XP_011541830.1:p.Glu308Asp
XM_011543529.1:c.924A>T	XP_011541831.1:p.Glu308Asp
NM_001363147.1:c.810A>T	NP_001350076.1:p.Glu270Asp
XM_011543529.2:c.924A>T	XP_011541831.1:p.Glu308Asp
XM_017009688.1:c.924A>T	XP_016865177.1:p.Glu308Asp
XR_001742172.1:n.964A>T
NM_022132.5:c.924A>T MANE Select	NP_071415.1:p.Glu308Asp