Canonical Allele Identifier: CA359986501

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930806T>A (hg19) ; chr5:g.71634979T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634979T>A , CM000667.2:g.71634979T>A	GRCh38
NC_000005.9:g.70930806T>A , CM000667.1:g.70930806T>A	GRCh37
NC_000005.8:g.70966562T>A	NCBI36
NG_008882.1:g.52692T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.796T>A
ENST00000505787.8:n.2680T>A
ENST00000509358.7:c.840T>A	ENSP00000420994.3:p.Asp280Glu
ENST00000509539.3:c.102T>A	ENSP00000425474.3:p.Asp34Glu
ENST00000510895.7:n.963T>A
ENST00000629193.3:c.726T>A	ENSP00000486535.2:p.Asp242Glu
ENST00000681968.1:c.333T>A	ENSP00000508143.1:p.Asp111Glu
ENST00000682045.1:c.696T>A	ENSP00000507329.1:p.Asp232Glu
ENST00000682214.1:c.447T>A	ENSP00000507336.1:p.Asp149Glu
ENST00000682499.1:n.1661T>A
ENST00000682541.1:c.840T>A	ENSP00000507673.1:p.Asp280Glu
ENST00000682687.1:c.840T>A	ENSP00000507945.1:p.Asp280Glu
ENST00000682727.1:c.840T>A	ENSP00000507393.1:p.Asp280Glu
ENST00000682876.1:c.969T>A	ENSP00000508389.1:p.Asp323Glu
ENST00000683098.1:c.803+2794T>A	ENSP00000507670.1:n.803+2794T>A
ENST00000683258.1:c.*561T>A	ENSP00000507448.1:n.*561T>A
ENST00000683339.1:c.624T>A	ENSP00000507758.1:p.Asp208Glu
ENST00000683403.1:c.813+27T>A	ENSP00000507896.1:n.813+27T>A
ENST00000683429.1:c.447T>A	ENSP00000507697.1:p.Asp149Glu
ENST00000683665.1:c.840T>A	ENSP00000507068.1:p.Asp280Glu
ENST00000683789.1:c.726T>A	ENSP00000507012.1:p.Asp242Glu
ENST00000683847.1:n.684T>A
ENST00000683882.1:c.840T>A	ENSP00000506735.1:p.Asp280Glu
ENST00000684024.1:c.*511T>A	ENSP00000507175.1:n.*511T>A
ENST00000684254.1:c.*566T>A	ENSP00000508001.1:n.*566T>A
ENST00000684310.1:c.102T>A	ENSP00000507550.1:p.Asp34Glu
ENST00000684530.1:c.102T>A	ENSP00000507439.1:p.Asp34Glu
ENST00000684652.1:n.1842T>A
ENST00000340941.11:c.840T>A MANE Select	ENSP00000343657.6:p.Asp280Glu
ENST00000340941.10:c.840T>A	ENSP00000343657.6:p.Asp280Glu
ENST00000505435.3:n.191T>A
ENST00000505787.7:n.654T>A
ENST00000509358.6:c.840T>A	ENSP00000420994.2:p.Asp280Glu
ENST00000509539.2:c.165T>A	ENSP00000425474.2:p.Asp55Glu
ENST00000510895.6:n.454T>A
ENST00000512218.6:c.726T>A	ENSP00000423202.2:p.Asp242Glu
ENST00000629193.2:c.726T>A	ENSP00000486535.1:p.Asp242Glu
NM_022132.4:c.840T>A	NP_071415.1:p.Asp280Glu
XM_005248567.1:c.726T>A	XP_005248624.1:p.Asp242Glu
XM_011543528.1:c.840T>A	XP_011541830.1:p.Asp280Glu
XM_011543529.1:c.840T>A	XP_011541831.1:p.Asp280Glu
NM_001363147.1:c.726T>A	NP_001350076.1:p.Asp242Glu
XM_011543529.2:c.840T>A	XP_011541831.1:p.Asp280Glu
XM_017009688.1:c.840T>A	XP_016865177.1:p.Asp280Glu
XR_001742172.1:n.880T>A
NM_022132.5:c.840T>A MANE Select	NP_071415.1:p.Asp280Glu