Canonical Allele Identifier: CA359987190

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930864T>G (hg19) ; chr5:g.71635037T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635037T>G , CM000667.2:g.71635037T>G	GRCh38
NC_000005.9:g.70930864T>G , CM000667.1:g.70930864T>G	GRCh37
NC_000005.8:g.70966620T>G	NCBI36
NG_008882.1:g.52750T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.854T>G
ENST00000505787.8:n.2738T>G
ENST00000509358.7:c.898T>G	ENSP00000420994.3:p.Leu300Val
ENST00000509539.3:c.160T>G	ENSP00000425474.3:p.Leu54Val
ENST00000510895.7:n.1021T>G
ENST00000629193.3:c.784T>G	ENSP00000486535.2:p.Leu262Val
ENST00000681968.1:c.391T>G	ENSP00000508143.1:p.Leu131Val
ENST00000682045.1:c.754T>G	ENSP00000507329.1:p.Leu252Val
ENST00000682214.1:c.505T>G	ENSP00000507336.1:p.Leu169Val
ENST00000682499.1:n.1719T>G
ENST00000682541.1:c.898T>G	ENSP00000507673.1:p.Leu300Val
ENST00000682687.1:c.898T>G	ENSP00000507945.1:p.Leu300Val
ENST00000682727.1:c.898T>G	ENSP00000507393.1:p.Leu300Val
ENST00000682876.1:c.1027T>G	ENSP00000508389.1:p.Leu343Val
ENST00000683098.1:c.803+2852T>G	ENSP00000507670.1:n.803+2852T>G
ENST00000683258.1:c.*619T>G	ENSP00000507448.1:n.*619T>G
ENST00000683339.1:c.682T>G	ENSP00000507758.1:p.Leu228Val
ENST00000683403.1:c.813+85T>G	ENSP00000507896.1:n.813+85T>G
ENST00000683429.1:c.505T>G	ENSP00000507697.1:p.Leu169Val
ENST00000683665.1:c.898T>G	ENSP00000507068.1:p.Leu300Val
ENST00000683789.1:c.784T>G	ENSP00000507012.1:p.Leu262Val
ENST00000683847.1:n.742T>G
ENST00000683882.1:c.898T>G	ENSP00000506735.1:p.Leu300Val
ENST00000684024.1:c.*569T>G	ENSP00000507175.1:n.*569T>G
ENST00000684254.1:c.*624T>G	ENSP00000508001.1:n.*624T>G
ENST00000684310.1:c.160T>G	ENSP00000507550.1:p.Leu54Val
ENST00000684530.1:c.160T>G	ENSP00000507439.1:p.Leu54Val
ENST00000684652.1:n.1900T>G
ENST00000340941.11:c.898T>G MANE Select	ENSP00000343657.6:p.Leu300Val
ENST00000340941.10:c.898T>G	ENSP00000343657.6:p.Leu300Val
ENST00000505435.3:n.249T>G
ENST00000505787.7:n.712T>G
ENST00000509358.6:c.898T>G	ENSP00000420994.2:p.Leu300Val
ENST00000509539.2:c.223T>G	ENSP00000425474.2:p.Leu75Val
ENST00000510895.6:n.512T>G
ENST00000512218.6:c.784T>G	ENSP00000423202.2:p.Leu262Val
ENST00000629193.2:c.784T>G	ENSP00000486535.1:p.Leu262Val
NM_022132.4:c.898T>G	NP_071415.1:p.Leu300Val
XM_005248567.1:c.784T>G	XP_005248624.1:p.Leu262Val
XM_011543528.1:c.898T>G	XP_011541830.1:p.Leu300Val
XM_011543529.1:c.898T>G	XP_011541831.1:p.Leu300Val
NM_001363147.1:c.784T>G	NP_001350076.1:p.Leu262Val
XM_011543529.2:c.898T>G	XP_011541831.1:p.Leu300Val
XM_017009688.1:c.898T>G	XP_016865177.1:p.Leu300Val
XR_001742172.1:n.938T>G
NM_022132.5:c.898T>G MANE Select	NP_071415.1:p.Leu300Val