Canonical Allele Identifier: CA359987419

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930987G>C (hg19) ; chr5:g.71635160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635160G>C , CM000667.2:g.71635160G>C	GRCh38
NC_000005.9:g.70930987G>C , CM000667.1:g.70930987G>C	GRCh37
NC_000005.8:g.70966743G>C	NCBI36
NG_008882.1:g.52873G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.869G>C
ENST00000505787.8:n.2753G>C
ENST00000509358.7:c.913G>C	ENSP00000420994.3:p.Glu305Gln
ENST00000509539.3:c.175G>C	ENSP00000425474.3:p.Glu59Gln
ENST00000510895.7:n.1036G>C
ENST00000629193.3:c.799G>C	ENSP00000486535.2:p.Glu267Gln
ENST00000681968.1:c.406G>C	ENSP00000508143.1:p.Glu136Gln
ENST00000682045.1:c.769G>C	ENSP00000507329.1:p.Glu257Gln
ENST00000682214.1:c.520G>C	ENSP00000507336.1:p.Glu174Gln
ENST00000682499.1:n.1734G>C
ENST00000682541.1:c.913G>C	ENSP00000507673.1:p.Glu305Gln
ENST00000682687.1:c.913G>C	ENSP00000507945.1:p.Glu305Gln
ENST00000682727.1:c.913G>C	ENSP00000507393.1:p.Glu305Gln
ENST00000682876.1:c.1042G>C	ENSP00000508389.1:p.Glu348Gln
ENST00000683098.1:c.803+2975G>C	ENSP00000507670.1:n.803+2975G>C
ENST00000683258.1:c.*634G>C	ENSP00000507448.1:n.*634G>C
ENST00000683339.1:c.697G>C	ENSP00000507758.1:p.Glu233Gln
ENST00000683403.1:c.823G>C	ENSP00000507896.1:p.Glu275Gln
ENST00000683429.1:c.520G>C	ENSP00000507697.1:p.Glu174Gln
ENST00000683665.1:c.913G>C	ENSP00000507068.1:p.Glu305Gln
ENST00000683789.1:c.799G>C	ENSP00000507012.1:p.Glu267Gln
ENST00000683847.1:n.757G>C
ENST00000683882.1:c.913G>C	ENSP00000506735.1:p.Glu305Gln
ENST00000684024.1:c.*584G>C	ENSP00000507175.1:n.*584G>C
ENST00000684254.1:c.*639G>C	ENSP00000508001.1:n.*639G>C
ENST00000684310.1:c.165+118G>C	ENSP00000507550.1:n.165+118G>C
ENST00000684530.1:c.175G>C	ENSP00000507439.1:p.Glu59Gln
ENST00000684652.1:n.1915G>C
ENST00000340941.11:c.913G>C MANE Select	ENSP00000343657.6:p.Glu305Gln
ENST00000340941.10:c.913G>C	ENSP00000343657.6:p.Glu305Gln
ENST00000505435.3:n.264G>C
ENST00000509358.6:c.913G>C	ENSP00000420994.2:p.Glu305Gln
ENST00000509539.2:c.238G>C	ENSP00000425474.2:p.Glu80Gln
ENST00000510895.6:n.527G>C
ENST00000512218.6:c.799G>C	ENSP00000423202.2:p.Glu267Gln
ENST00000629193.2:c.799G>C	ENSP00000486535.1:p.Glu267Gln
NM_022132.4:c.913G>C	NP_071415.1:p.Glu305Gln
XM_005248567.1:c.799G>C	XP_005248624.1:p.Glu267Gln
XM_011543528.1:c.913G>C	XP_011541830.1:p.Glu305Gln
XM_011543529.1:c.913G>C	XP_011541831.1:p.Glu305Gln
NM_001363147.1:c.799G>C	NP_001350076.1:p.Glu267Gln
XM_011543529.2:c.913G>C	XP_011541831.1:p.Glu305Gln
XM_017009688.1:c.913G>C	XP_016865177.1:p.Glu305Gln
XR_001742172.1:n.953G>C
NM_022132.5:c.913G>C MANE Select	NP_071415.1:p.Glu305Gln