Canonical Allele Identifier: CA444801153

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931001G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635174G>A , CM000667.2:g.71635174G>A	GRCh38
NC_000005.9:g.70931001G>A , CM000667.1:g.70931001G>A	GRCh37
NC_000005.8:g.70966757G>A	NCBI36
NG_008882.1:g.52887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.883G>A
ENST00000505787.8:n.2767G>A
ENST00000509358.7:c.927G>A	ENSP00000420994.3:p.Glu309=
ENST00000509539.3:c.189G>A	ENSP00000425474.3:p.Glu63=
ENST00000510895.7:n.1050G>A
ENST00000629193.3:c.813G>A	ENSP00000486535.2:p.Glu271=
ENST00000681968.1:c.420G>A	ENSP00000508143.1:p.Glu140=
ENST00000682045.1:c.783G>A	ENSP00000507329.1:p.Glu261=
ENST00000682214.1:c.534G>A	ENSP00000507336.1:p.Glu178=
ENST00000682499.1:n.1748G>A
ENST00000682541.1:c.927G>A	ENSP00000507673.1:p.Glu309=
ENST00000682687.1:c.927G>A	ENSP00000507945.1:p.Glu309=
ENST00000682727.1:c.927G>A	ENSP00000507393.1:p.Glu309=
ENST00000682876.1:c.1056G>A	ENSP00000508389.1:p.Glu352=
ENST00000683098.1:c.803+2989G>A	ENSP00000507670.1:n.803+2989G>A
ENST00000683258.1:c.*648G>A	ENSP00000507448.1:n.*648G>A
ENST00000683339.1:c.711G>A	ENSP00000507758.1:p.Glu237=
ENST00000683403.1:c.837G>A	ENSP00000507896.1:p.Glu279=
ENST00000683429.1:c.534G>A	ENSP00000507697.1:p.Glu178=
ENST00000683665.1:c.927G>A	ENSP00000507068.1:p.Glu309=
ENST00000683789.1:c.813G>A	ENSP00000507012.1:p.Glu271=
ENST00000683847.1:n.771G>A
ENST00000683882.1:c.927G>A	ENSP00000506735.1:p.Glu309=
ENST00000684024.1:c.*598G>A	ENSP00000507175.1:n.*598G>A
ENST00000684254.1:c.*653G>A	ENSP00000508001.1:n.*653G>A
ENST00000684310.1:c.165+132G>A	ENSP00000507550.1:n.165+132G>A
ENST00000684530.1:c.189G>A	ENSP00000507439.1:p.Glu63=
ENST00000684652.1:n.1929G>A
ENST00000340941.11:c.927G>A MANE Select	ENSP00000343657.6:p.Glu309=
ENST00000340941.10:c.927G>A	ENSP00000343657.6:p.Glu309=
ENST00000505435.3:n.278G>A
ENST00000509358.6:c.927G>A	ENSP00000420994.2:p.Glu309=
ENST00000509539.2:c.252G>A	ENSP00000425474.2:p.Glu84=
ENST00000510895.6:n.541G>A
ENST00000512218.6:c.813G>A	ENSP00000423202.2:p.Glu271=
ENST00000629193.2:c.813G>A	ENSP00000486535.1:p.Glu271=
NM_022132.4:c.927G>A	NP_071415.1:p.Glu309=
XM_005248567.1:c.813G>A	XP_005248624.1:p.Glu271=
XM_011543528.1:c.927G>A	XP_011541830.1:p.Glu309=
XM_011543529.1:c.927G>A	XP_011541831.1:p.Glu309=
NM_001363147.1:c.813G>A	NP_001350076.1:p.Glu271=
XM_011543529.2:c.927G>A	XP_011541831.1:p.Glu309=
XM_017009688.1:c.927G>A	XP_016865177.1:p.Glu309=
XR_001742172.1:n.967G>A
NM_022132.5:c.927G>A MANE Select	NP_071415.1:p.Glu309=