Canonical Allele Identifier: CA359986386

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930798T>G (hg19) ; chr5:g.71634971T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634971T>G , CM000667.2:g.71634971T>G	GRCh38
NC_000005.9:g.70930798T>G , CM000667.1:g.70930798T>G	GRCh37
NC_000005.8:g.70966554T>G	NCBI36
NG_008882.1:g.52684T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.788T>G
ENST00000505787.8:n.2672T>G
ENST00000509358.7:c.832T>G	ENSP00000420994.3:p.Leu278Val
ENST00000509539.3:c.94T>G	ENSP00000425474.3:p.Leu32Val
ENST00000510895.7:n.955T>G
ENST00000629193.3:c.718T>G	ENSP00000486535.2:p.Leu240Val
ENST00000681968.1:c.325T>G	ENSP00000508143.1:p.Leu109Val
ENST00000682045.1:c.688T>G	ENSP00000507329.1:p.Leu230Val
ENST00000682214.1:c.439T>G	ENSP00000507336.1:p.Leu147Val
ENST00000682499.1:n.1653T>G
ENST00000682541.1:c.832T>G	ENSP00000507673.1:p.Leu278Val
ENST00000682687.1:c.832T>G	ENSP00000507945.1:p.Leu278Val
ENST00000682727.1:c.832T>G	ENSP00000507393.1:p.Leu278Val
ENST00000682876.1:c.961T>G	ENSP00000508389.1:p.Leu321Val
ENST00000683098.1:c.803+2786T>G	ENSP00000507670.1:n.803+2786T>G
ENST00000683258.1:c.*553T>G	ENSP00000507448.1:n.*553T>G
ENST00000683339.1:c.616T>G	ENSP00000507758.1:p.Leu206Val
ENST00000683403.1:c.813+19T>G	ENSP00000507896.1:n.813+19T>G
ENST00000683429.1:c.439T>G	ENSP00000507697.1:p.Leu147Val
ENST00000683665.1:c.832T>G	ENSP00000507068.1:p.Leu278Val
ENST00000683789.1:c.718T>G	ENSP00000507012.1:p.Leu240Val
ENST00000683847.1:n.676T>G
ENST00000683882.1:c.832T>G	ENSP00000506735.1:p.Leu278Val
ENST00000684024.1:c.*503T>G	ENSP00000507175.1:n.*503T>G
ENST00000684254.1:c.*558T>G	ENSP00000508001.1:n.*558T>G
ENST00000684310.1:c.94T>G	ENSP00000507550.1:p.Leu32Val
ENST00000684530.1:c.94T>G	ENSP00000507439.1:p.Leu32Val
ENST00000684652.1:n.1834T>G
ENST00000340941.11:c.832T>G MANE Select	ENSP00000343657.6:p.Leu278Val
ENST00000340941.10:c.832T>G	ENSP00000343657.6:p.Leu278Val
ENST00000505435.3:n.183T>G
ENST00000505787.7:n.646T>G
ENST00000509358.6:c.832T>G	ENSP00000420994.2:p.Leu278Val
ENST00000509539.2:c.157T>G	ENSP00000425474.2:p.Leu53Val
ENST00000510895.6:n.446T>G
ENST00000512218.6:c.718T>G	ENSP00000423202.2:p.Leu240Val
ENST00000629193.2:c.718T>G	ENSP00000486535.1:p.Leu240Val
NM_022132.4:c.832T>G	NP_071415.1:p.Leu278Val
XM_005248567.1:c.718T>G	XP_005248624.1:p.Leu240Val
XM_011543528.1:c.832T>G	XP_011541830.1:p.Leu278Val
XM_011543529.1:c.832T>G	XP_011541831.1:p.Leu278Val
NM_001363147.1:c.718T>G	NP_001350076.1:p.Leu240Val
XM_011543529.2:c.832T>G	XP_011541831.1:p.Leu278Val
XM_017009688.1:c.832T>G	XP_016865177.1:p.Leu278Val
XR_001742172.1:n.872T>G
NM_022132.5:c.832T>G MANE Select	NP_071415.1:p.Leu278Val