Canonical Allele Identifier: CA359986570

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930810C>T (hg19) ; chr5:g.71634983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634983C>T , CM000667.2:g.71634983C>T	GRCh38
NC_000005.9:g.70930810C>T , CM000667.1:g.70930810C>T	GRCh37
NC_000005.8:g.70966566C>T	NCBI36
NG_008882.1:g.52696C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.800C>T
ENST00000505787.8:n.2684C>T
ENST00000509358.7:c.844C>T	ENSP00000420994.3:p.His282Tyr
ENST00000509539.3:c.106C>T	ENSP00000425474.3:p.His36Tyr
ENST00000510895.7:n.967C>T
ENST00000629193.3:c.730C>T	ENSP00000486535.2:p.His244Tyr
ENST00000681968.1:c.337C>T	ENSP00000508143.1:p.His113Tyr
ENST00000682045.1:c.700C>T	ENSP00000507329.1:p.His234Tyr
ENST00000682214.1:c.451C>T	ENSP00000507336.1:p.His151Tyr
ENST00000682499.1:n.1665C>T
ENST00000682541.1:c.844C>T	ENSP00000507673.1:p.His282Tyr
ENST00000682687.1:c.844C>T	ENSP00000507945.1:p.His282Tyr
ENST00000682727.1:c.844C>T	ENSP00000507393.1:p.His282Tyr
ENST00000682876.1:c.973C>T	ENSP00000508389.1:p.His325Tyr
ENST00000683098.1:c.803+2798C>T	ENSP00000507670.1:n.803+2798C>T
ENST00000683258.1:c.*565C>T	ENSP00000507448.1:n.*565C>T
ENST00000683339.1:c.628C>T	ENSP00000507758.1:p.His210Tyr
ENST00000683403.1:c.813+31C>T	ENSP00000507896.1:n.813+31C>T
ENST00000683429.1:c.451C>T	ENSP00000507697.1:p.His151Tyr
ENST00000683665.1:c.844C>T	ENSP00000507068.1:p.His282Tyr
ENST00000683789.1:c.730C>T	ENSP00000507012.1:p.His244Tyr
ENST00000683847.1:n.688C>T
ENST00000683882.1:c.844C>T	ENSP00000506735.1:p.His282Tyr
ENST00000684024.1:c.*515C>T	ENSP00000507175.1:n.*515C>T
ENST00000684254.1:c.*570C>T	ENSP00000508001.1:n.*570C>T
ENST00000684310.1:c.106C>T	ENSP00000507550.1:p.His36Tyr
ENST00000684530.1:c.106C>T	ENSP00000507439.1:p.His36Tyr
ENST00000684652.1:n.1846C>T
ENST00000340941.11:c.844C>T MANE Select	ENSP00000343657.6:p.His282Tyr
ENST00000340941.10:c.844C>T	ENSP00000343657.6:p.His282Tyr
ENST00000505435.3:n.195C>T
ENST00000505787.7:n.658C>T
ENST00000509358.6:c.844C>T	ENSP00000420994.2:p.His282Tyr
ENST00000509539.2:c.169C>T	ENSP00000425474.2:p.His57Tyr
ENST00000510895.6:n.458C>T
ENST00000512218.6:c.730C>T	ENSP00000423202.2:p.His244Tyr
ENST00000629193.2:c.730C>T	ENSP00000486535.1:p.His244Tyr
NM_022132.4:c.844C>T	NP_071415.1:p.His282Tyr
XM_005248567.1:c.730C>T	XP_005248624.1:p.His244Tyr
XM_011543528.1:c.844C>T	XP_011541830.1:p.His282Tyr
XM_011543529.1:c.844C>T	XP_011541831.1:p.His282Tyr
NM_001363147.1:c.730C>T	NP_001350076.1:p.His244Tyr
XM_011543529.2:c.844C>T	XP_011541831.1:p.His282Tyr
XM_017009688.1:c.844C>T	XP_016865177.1:p.His282Tyr
XR_001742172.1:n.884C>T
NM_022132.5:c.844C>T MANE Select	NP_071415.1:p.His282Tyr