Canonical Allele Identifier: CA444801050

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930818T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634991T>A , CM000667.2:g.71634991T>A	GRCh38
NC_000005.9:g.70930818T>A , CM000667.1:g.70930818T>A	GRCh37
NC_000005.8:g.70966574T>A	NCBI36
NG_008882.1:g.52704T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.808T>A
ENST00000505787.8:n.2692T>A
ENST00000509358.7:c.852T>A	ENSP00000420994.3:p.Leu284=
ENST00000509539.3:c.114T>A	ENSP00000425474.3:p.Leu38=
ENST00000510895.7:n.975T>A
ENST00000629193.3:c.738T>A	ENSP00000486535.2:p.Leu246=
ENST00000681968.1:c.345T>A	ENSP00000508143.1:p.Leu115=
ENST00000682045.1:c.708T>A	ENSP00000507329.1:p.Leu236=
ENST00000682214.1:c.459T>A	ENSP00000507336.1:p.Leu153=
ENST00000682499.1:n.1673T>A
ENST00000682541.1:c.852T>A	ENSP00000507673.1:p.Leu284=
ENST00000682687.1:c.852T>A	ENSP00000507945.1:p.Leu284=
ENST00000682727.1:c.852T>A	ENSP00000507393.1:p.Leu284=
ENST00000682876.1:c.981T>A	ENSP00000508389.1:p.Leu327=
ENST00000683098.1:c.803+2806T>A	ENSP00000507670.1:n.803+2806T>A
ENST00000683258.1:c.*573T>A	ENSP00000507448.1:n.*573T>A
ENST00000683339.1:c.636T>A	ENSP00000507758.1:p.Leu212=
ENST00000683403.1:c.813+39T>A	ENSP00000507896.1:n.813+39T>A
ENST00000683429.1:c.459T>A	ENSP00000507697.1:p.Leu153=
ENST00000683665.1:c.852T>A	ENSP00000507068.1:p.Leu284=
ENST00000683789.1:c.738T>A	ENSP00000507012.1:p.Leu246=
ENST00000683847.1:n.696T>A
ENST00000683882.1:c.852T>A	ENSP00000506735.1:p.Leu284=
ENST00000684024.1:c.*523T>A	ENSP00000507175.1:n.*523T>A
ENST00000684254.1:c.*578T>A	ENSP00000508001.1:n.*578T>A
ENST00000684310.1:c.114T>A	ENSP00000507550.1:p.Leu38=
ENST00000684530.1:c.114T>A	ENSP00000507439.1:p.Leu38=
ENST00000684652.1:n.1854T>A
ENST00000340941.11:c.852T>A MANE Select	ENSP00000343657.6:p.Leu284=
ENST00000340941.10:c.852T>A	ENSP00000343657.6:p.Leu284=
ENST00000505435.3:n.203T>A
ENST00000505787.7:n.666T>A
ENST00000509358.6:c.852T>A	ENSP00000420994.2:p.Leu284=
ENST00000509539.2:c.177T>A	ENSP00000425474.2:p.Leu59=
ENST00000510895.6:n.466T>A
ENST00000512218.6:c.738T>A	ENSP00000423202.2:p.Leu246=
ENST00000629193.2:c.738T>A	ENSP00000486535.1:p.Leu246=
NM_022132.4:c.852T>A	NP_071415.1:p.Leu284=
XM_005248567.1:c.738T>A	XP_005248624.1:p.Leu246=
XM_011543528.1:c.852T>A	XP_011541830.1:p.Leu284=
XM_011543529.1:c.852T>A	XP_011541831.1:p.Leu284=
NM_001363147.1:c.738T>A	NP_001350076.1:p.Leu246=
XM_011543529.2:c.852T>A	XP_011541831.1:p.Leu284=
XM_017009688.1:c.852T>A	XP_016865177.1:p.Leu284=
XR_001742172.1:n.892T>A
NM_022132.5:c.852T>A MANE Select	NP_071415.1:p.Leu284=