Canonical Allele Identifier: CA359986660

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930817T>G (hg19) ; chr5:g.71634990T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634990T>G , CM000667.2:g.71634990T>G	GRCh38
NC_000005.9:g.70930817T>G , CM000667.1:g.70930817T>G	GRCh37
NC_000005.8:g.70966573T>G	NCBI36
NG_008882.1:g.52703T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.807T>G
ENST00000505787.8:n.2691T>G
ENST00000509358.7:c.851T>G	ENSP00000420994.3:p.Leu284Arg
ENST00000509539.3:c.113T>G	ENSP00000425474.3:p.Leu38Arg
ENST00000510895.7:n.974T>G
ENST00000629193.3:c.737T>G	ENSP00000486535.2:p.Leu246Arg
ENST00000681968.1:c.344T>G	ENSP00000508143.1:p.Leu115Arg
ENST00000682045.1:c.707T>G	ENSP00000507329.1:p.Leu236Arg
ENST00000682214.1:c.458T>G	ENSP00000507336.1:p.Leu153Arg
ENST00000682499.1:n.1672T>G
ENST00000682541.1:c.851T>G	ENSP00000507673.1:p.Leu284Arg
ENST00000682687.1:c.851T>G	ENSP00000507945.1:p.Leu284Arg
ENST00000682727.1:c.851T>G	ENSP00000507393.1:p.Leu284Arg
ENST00000682876.1:c.980T>G	ENSP00000508389.1:p.Leu327Arg
ENST00000683098.1:c.803+2805T>G	ENSP00000507670.1:n.803+2805T>G
ENST00000683258.1:c.*572T>G	ENSP00000507448.1:n.*572T>G
ENST00000683339.1:c.635T>G	ENSP00000507758.1:p.Leu212Arg
ENST00000683403.1:c.813+38T>G	ENSP00000507896.1:n.813+38T>G
ENST00000683429.1:c.458T>G	ENSP00000507697.1:p.Leu153Arg
ENST00000683665.1:c.851T>G	ENSP00000507068.1:p.Leu284Arg
ENST00000683789.1:c.737T>G	ENSP00000507012.1:p.Leu246Arg
ENST00000683847.1:n.695T>G
ENST00000683882.1:c.851T>G	ENSP00000506735.1:p.Leu284Arg
ENST00000684024.1:c.*522T>G	ENSP00000507175.1:n.*522T>G
ENST00000684254.1:c.*577T>G	ENSP00000508001.1:n.*577T>G
ENST00000684310.1:c.113T>G	ENSP00000507550.1:p.Leu38Arg
ENST00000684530.1:c.113T>G	ENSP00000507439.1:p.Leu38Arg
ENST00000684652.1:n.1853T>G
ENST00000340941.11:c.851T>G MANE Select	ENSP00000343657.6:p.Leu284Arg
ENST00000340941.10:c.851T>G	ENSP00000343657.6:p.Leu284Arg
ENST00000505435.3:n.202T>G
ENST00000505787.7:n.665T>G
ENST00000509358.6:c.851T>G	ENSP00000420994.2:p.Leu284Arg
ENST00000509539.2:c.176T>G	ENSP00000425474.2:p.Leu59Arg
ENST00000510895.6:n.465T>G
ENST00000512218.6:c.737T>G	ENSP00000423202.2:p.Leu246Arg
ENST00000629193.2:c.737T>G	ENSP00000486535.1:p.Leu246Arg
NM_022132.4:c.851T>G	NP_071415.1:p.Leu284Arg
XM_005248567.1:c.737T>G	XP_005248624.1:p.Leu246Arg
XM_011543528.1:c.851T>G	XP_011541830.1:p.Leu284Arg
XM_011543529.1:c.851T>G	XP_011541831.1:p.Leu284Arg
NM_001363147.1:c.737T>G	NP_001350076.1:p.Leu246Arg
XM_011543529.2:c.851T>G	XP_011541831.1:p.Leu284Arg
XM_017009688.1:c.851T>G	XP_016865177.1:p.Leu284Arg
XR_001742172.1:n.891T>G
NM_022132.5:c.851T>G MANE Select	NP_071415.1:p.Leu284Arg