Canonical Allele Identifier: CA359987788

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931054G>C (hg19) ; chr5:g.71635227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635227G>C , CM000667.2:g.71635227G>C	GRCh38
NC_000005.9:g.70931054G>C , CM000667.1:g.70931054G>C	GRCh37
NC_000005.8:g.70966810G>C	NCBI36
NG_008882.1:g.52940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.936G>C
ENST00000505787.8:n.2820G>C
ENST00000509358.7:c.980G>C	ENSP00000420994.3:p.Arg327Thr
ENST00000509539.3:c.242G>C	ENSP00000425474.3:p.Arg81Thr
ENST00000510895.7:n.1103G>C
ENST00000629193.3:c.866G>C	ENSP00000486535.2:p.Arg289Thr
ENST00000681968.1:c.473G>C	ENSP00000508143.1:p.Arg158Thr
ENST00000682045.1:c.836G>C	ENSP00000507329.1:p.Arg279Thr
ENST00000682214.1:c.587G>C	ENSP00000507336.1:p.Arg196Thr
ENST00000682499.1:n.1801G>C
ENST00000682541.1:c.980G>C	ENSP00000507673.1:p.Arg327Thr
ENST00000682687.1:c.980G>C	ENSP00000507945.1:p.Arg327Thr
ENST00000682727.1:c.980G>C	ENSP00000507393.1:p.Arg327Thr
ENST00000682876.1:c.1109G>C	ENSP00000508389.1:p.Arg370Thr
ENST00000683098.1:c.803+3042G>C	ENSP00000507670.1:n.803+3042G>C
ENST00000683258.1:c.*701G>C	ENSP00000507448.1:n.*701G>C
ENST00000683339.1:c.764G>C	ENSP00000507758.1:p.Arg255Thr
ENST00000683403.1:c.890G>C	ENSP00000507896.1:p.Arg297Thr
ENST00000683429.1:c.587G>C	ENSP00000507697.1:p.Arg196Thr
ENST00000683665.1:c.980G>C	ENSP00000507068.1:p.Arg327Thr
ENST00000683789.1:c.866G>C	ENSP00000507012.1:p.Arg289Thr
ENST00000683847.1:n.824G>C
ENST00000683882.1:c.980G>C	ENSP00000506735.1:p.Arg327Thr
ENST00000684024.1:c.*651G>C	ENSP00000507175.1:n.*651G>C
ENST00000684254.1:c.*706G>C	ENSP00000508001.1:n.*706G>C
ENST00000684310.1:c.165+185G>C	ENSP00000507550.1:n.165+185G>C
ENST00000684530.1:c.242G>C	ENSP00000507439.1:p.Arg81Thr
ENST00000684652.1:n.1982G>C
ENST00000340941.11:c.980G>C MANE Select	ENSP00000343657.6:p.Arg327Thr
ENST00000340941.10:c.980G>C	ENSP00000343657.6:p.Arg327Thr
ENST00000505435.3:n.331G>C
ENST00000509358.6:c.980G>C	ENSP00000420994.2:p.Arg327Thr
ENST00000509539.2:c.305G>C	ENSP00000425474.2:p.Arg102Thr
ENST00000510895.6:n.594G>C
ENST00000512218.6:c.866G>C	ENSP00000423202.2:p.Arg289Thr
ENST00000629193.2:c.866G>C	ENSP00000486535.1:p.Arg289Thr
NM_022132.4:c.980G>C	NP_071415.1:p.Arg327Thr
XM_005248567.1:c.866G>C	XP_005248624.1:p.Arg289Thr
XM_011543528.1:c.980G>C	XP_011541830.1:p.Arg327Thr
XM_011543529.1:c.980G>C	XP_011541831.1:p.Arg327Thr
NM_001363147.1:c.866G>C	NP_001350076.1:p.Arg289Thr
XM_011543529.2:c.980G>C	XP_011541831.1:p.Arg327Thr
XM_017009688.1:c.980G>C	XP_016865177.1:p.Arg327Thr
XR_001742172.1:n.1020G>C
NM_022132.5:c.980G>C MANE Select	NP_071415.1:p.Arg327Thr