Canonical Allele Identifier: CA444801062

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 2070530
• ClinVar RCV Id: RCV002971220
• MyVariant Identifiers: chr5:g.70930827T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635000T>A , CM000667.2:g.71635000T>A	GRCh38
NC_000005.9:g.70930827T>A , CM000667.1:g.70930827T>A	GRCh37
NC_000005.8:g.70966583T>A	NCBI36
NG_008882.1:g.52713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.817T>A
ENST00000505787.8:n.2701T>A
ENST00000509358.7:c.861T>A	ENSP00000420994.3:p.Thr287=
ENST00000509539.3:c.123T>A	ENSP00000425474.3:p.Thr41=
ENST00000510895.7:n.984T>A
ENST00000629193.3:c.747T>A	ENSP00000486535.2:p.Thr249=
ENST00000681968.1:c.354T>A	ENSP00000508143.1:p.Thr118=
ENST00000682045.1:c.717T>A	ENSP00000507329.1:p.Thr239=
ENST00000682214.1:c.468T>A	ENSP00000507336.1:p.Thr156=
ENST00000682499.1:n.1682T>A
ENST00000682541.1:c.861T>A	ENSP00000507673.1:p.Thr287=
ENST00000682687.1:c.861T>A	ENSP00000507945.1:p.Thr287=
ENST00000682727.1:c.861T>A	ENSP00000507393.1:p.Thr287=
ENST00000682876.1:c.990T>A	ENSP00000508389.1:p.Thr330=
ENST00000683098.1:c.803+2815T>A	ENSP00000507670.1:n.803+2815T>A
ENST00000683258.1:c.*582T>A	ENSP00000507448.1:n.*582T>A
ENST00000683339.1:c.645T>A	ENSP00000507758.1:p.Thr215=
ENST00000683403.1:c.813+48T>A	ENSP00000507896.1:n.813+48T>A
ENST00000683429.1:c.468T>A	ENSP00000507697.1:p.Thr156=
ENST00000683665.1:c.861T>A	ENSP00000507068.1:p.Thr287=
ENST00000683789.1:c.747T>A	ENSP00000507012.1:p.Thr249=
ENST00000683847.1:n.705T>A
ENST00000683882.1:c.861T>A	ENSP00000506735.1:p.Thr287=
ENST00000684024.1:c.*532T>A	ENSP00000507175.1:n.*532T>A
ENST00000684254.1:c.*587T>A	ENSP00000508001.1:n.*587T>A
ENST00000684310.1:c.123T>A	ENSP00000507550.1:p.Thr41=
ENST00000684530.1:c.123T>A	ENSP00000507439.1:p.Thr41=
ENST00000684652.1:n.1863T>A
ENST00000340941.11:c.861T>A MANE Select	ENSP00000343657.6:p.Thr287=
ENST00000340941.10:c.861T>A	ENSP00000343657.6:p.Thr287=
ENST00000505435.3:n.212T>A
ENST00000505787.7:n.675T>A
ENST00000509358.6:c.861T>A	ENSP00000420994.2:p.Thr287=
ENST00000509539.2:c.186T>A	ENSP00000425474.2:p.Thr62=
ENST00000510895.6:n.475T>A
ENST00000512218.6:c.747T>A	ENSP00000423202.2:p.Thr249=
ENST00000629193.2:c.747T>A	ENSP00000486535.1:p.Thr249=
NM_022132.4:c.861T>A	NP_071415.1:p.Thr287=
XM_005248567.1:c.747T>A	XP_005248624.1:p.Thr249=
XM_011543528.1:c.861T>A	XP_011541830.1:p.Thr287=
XM_011543529.1:c.861T>A	XP_011541831.1:p.Thr287=
NM_001363147.1:c.747T>A	NP_001350076.1:p.Thr249=
XM_011543529.2:c.861T>A	XP_011541831.1:p.Thr287=
XM_017009688.1:c.861T>A	XP_016865177.1:p.Thr287=
XR_001742172.1:n.901T>A
NM_022132.5:c.861T>A MANE Select	NP_071415.1:p.Thr287=