Canonical Allele Identifier: CA444801162

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931016T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635189T>A , CM000667.2:g.71635189T>A	GRCh38
NC_000005.9:g.70931016T>A , CM000667.1:g.70931016T>A	GRCh37
NC_000005.8:g.70966772T>A	NCBI36
NG_008882.1:g.52902T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.898T>A
ENST00000505787.8:n.2782T>A
ENST00000509358.7:c.942T>A	ENSP00000420994.3:p.Ala314=
ENST00000509539.3:c.204T>A	ENSP00000425474.3:p.Ala68=
ENST00000510895.7:n.1065T>A
ENST00000629193.3:c.828T>A	ENSP00000486535.2:p.Ala276=
ENST00000681968.1:c.435T>A	ENSP00000508143.1:p.Ala145=
ENST00000682045.1:c.798T>A	ENSP00000507329.1:p.Ala266=
ENST00000682214.1:c.549T>A	ENSP00000507336.1:p.Ala183=
ENST00000682499.1:n.1763T>A
ENST00000682541.1:c.942T>A	ENSP00000507673.1:p.Ala314=
ENST00000682687.1:c.942T>A	ENSP00000507945.1:p.Ala314=
ENST00000682727.1:c.942T>A	ENSP00000507393.1:p.Ala314=
ENST00000682876.1:c.1071T>A	ENSP00000508389.1:p.Ala357=
ENST00000683098.1:c.803+3004T>A	ENSP00000507670.1:n.803+3004T>A
ENST00000683258.1:c.*663T>A	ENSP00000507448.1:n.*663T>A
ENST00000683339.1:c.726T>A	ENSP00000507758.1:p.Ala242=
ENST00000683403.1:c.852T>A	ENSP00000507896.1:p.Ala284=
ENST00000683429.1:c.549T>A	ENSP00000507697.1:p.Ala183=
ENST00000683665.1:c.942T>A	ENSP00000507068.1:p.Ala314=
ENST00000683789.1:c.828T>A	ENSP00000507012.1:p.Ala276=
ENST00000683847.1:n.786T>A
ENST00000683882.1:c.942T>A	ENSP00000506735.1:p.Ala314=
ENST00000684024.1:c.*613T>A	ENSP00000507175.1:n.*613T>A
ENST00000684254.1:c.*668T>A	ENSP00000508001.1:n.*668T>A
ENST00000684310.1:c.165+147T>A	ENSP00000507550.1:n.165+147T>A
ENST00000684530.1:c.204T>A	ENSP00000507439.1:p.Ala68=
ENST00000684652.1:n.1944T>A
ENST00000340941.11:c.942T>A MANE Select	ENSP00000343657.6:p.Ala314=
ENST00000340941.10:c.942T>A	ENSP00000343657.6:p.Ala314=
ENST00000505435.3:n.293T>A
ENST00000509358.6:c.942T>A	ENSP00000420994.2:p.Ala314=
ENST00000509539.2:c.267T>A	ENSP00000425474.2:p.Ala89=
ENST00000510895.6:n.556T>A
ENST00000512218.6:c.828T>A	ENSP00000423202.2:p.Ala276=
ENST00000629193.2:c.828T>A	ENSP00000486535.1:p.Ala276=
NM_022132.4:c.942T>A	NP_071415.1:p.Ala314=
XM_005248567.1:c.828T>A	XP_005248624.1:p.Ala276=
XM_011543528.1:c.942T>A	XP_011541830.1:p.Ala314=
XM_011543529.1:c.942T>A	XP_011541831.1:p.Ala314=
NM_001363147.1:c.828T>A	NP_001350076.1:p.Ala276=
XM_011543529.2:c.942T>A	XP_011541831.1:p.Ala314=
XM_017009688.1:c.942T>A	XP_016865177.1:p.Ala314=
XR_001742172.1:n.982T>A
NM_022132.5:c.942T>A MANE Select	NP_071415.1:p.Ala314=