Canonical Allele Identifier: CA359987599

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931012C>A (hg19) ; chr5:g.71635185C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635185C>A , CM000667.2:g.71635185C>A	GRCh38
NC_000005.9:g.70931012C>A , CM000667.1:g.70931012C>A	GRCh37
NC_000005.8:g.70966768C>A	NCBI36
NG_008882.1:g.52898C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.894C>A
ENST00000505787.8:n.2778C>A
ENST00000509358.7:c.938C>A	ENSP00000420994.3:p.Pro313His
ENST00000509539.3:c.200C>A	ENSP00000425474.3:p.Pro67His
ENST00000510895.7:n.1061C>A
ENST00000629193.3:c.824C>A	ENSP00000486535.2:p.Pro275His
ENST00000681968.1:c.431C>A	ENSP00000508143.1:p.Pro144His
ENST00000682045.1:c.794C>A	ENSP00000507329.1:p.Pro265His
ENST00000682214.1:c.545C>A	ENSP00000507336.1:p.Pro182His
ENST00000682499.1:n.1759C>A
ENST00000682541.1:c.938C>A	ENSP00000507673.1:p.Pro313His
ENST00000682687.1:c.938C>A	ENSP00000507945.1:p.Pro313His
ENST00000682727.1:c.938C>A	ENSP00000507393.1:p.Pro313His
ENST00000682876.1:c.1067C>A	ENSP00000508389.1:p.Pro356His
ENST00000683098.1:c.803+3000C>A	ENSP00000507670.1:n.803+3000C>A
ENST00000683258.1:c.*659C>A	ENSP00000507448.1:n.*659C>A
ENST00000683339.1:c.722C>A	ENSP00000507758.1:p.Pro241His
ENST00000683403.1:c.848C>A	ENSP00000507896.1:p.Pro283His
ENST00000683429.1:c.545C>A	ENSP00000507697.1:p.Pro182His
ENST00000683665.1:c.938C>A	ENSP00000507068.1:p.Pro313His
ENST00000683789.1:c.824C>A	ENSP00000507012.1:p.Pro275His
ENST00000683847.1:n.782C>A
ENST00000683882.1:c.938C>A	ENSP00000506735.1:p.Pro313His
ENST00000684024.1:c.*609C>A	ENSP00000507175.1:n.*609C>A
ENST00000684254.1:c.*664C>A	ENSP00000508001.1:n.*664C>A
ENST00000684310.1:c.165+143C>A	ENSP00000507550.1:n.165+143C>A
ENST00000684530.1:c.200C>A	ENSP00000507439.1:p.Pro67His
ENST00000684652.1:n.1940C>A
ENST00000340941.11:c.938C>A MANE Select	ENSP00000343657.6:p.Pro313His
ENST00000340941.10:c.938C>A	ENSP00000343657.6:p.Pro313His
ENST00000505435.3:n.289C>A
ENST00000509358.6:c.938C>A	ENSP00000420994.2:p.Pro313His
ENST00000509539.2:c.263C>A	ENSP00000425474.2:p.Pro88His
ENST00000510895.6:n.552C>A
ENST00000512218.6:c.824C>A	ENSP00000423202.2:p.Pro275His
ENST00000629193.2:c.824C>A	ENSP00000486535.1:p.Pro275His
NM_022132.4:c.938C>A	NP_071415.1:p.Pro313His
XM_005248567.1:c.824C>A	XP_005248624.1:p.Pro275His
XM_011543528.1:c.938C>A	XP_011541830.1:p.Pro313His
XM_011543529.1:c.938C>A	XP_011541831.1:p.Pro313His
NM_001363147.1:c.824C>A	NP_001350076.1:p.Pro275His
XM_011543529.2:c.938C>A	XP_011541831.1:p.Pro313His
XM_017009688.1:c.938C>A	XP_016865177.1:p.Pro313His
XR_001742172.1:n.978C>A
NM_022132.5:c.938C>A MANE Select	NP_071415.1:p.Pro313His