Canonical Allele Identifier: CA359986560

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930809T>A (hg19) ; chr5:g.71634982T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634982T>A , CM000667.2:g.71634982T>A	GRCh38
NC_000005.9:g.70930809T>A , CM000667.1:g.70930809T>A	GRCh37
NC_000005.8:g.70966565T>A	NCBI36
NG_008882.1:g.52695T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.799T>A
ENST00000505787.8:n.2683T>A
ENST00000509358.7:c.843T>A	ENSP00000420994.3:p.His281Gln
ENST00000509539.3:c.105T>A	ENSP00000425474.3:p.His35Gln
ENST00000510895.7:n.966T>A
ENST00000629193.3:c.729T>A	ENSP00000486535.2:p.His243Gln
ENST00000681968.1:c.336T>A	ENSP00000508143.1:p.His112Gln
ENST00000682045.1:c.699T>A	ENSP00000507329.1:p.His233Gln
ENST00000682214.1:c.450T>A	ENSP00000507336.1:p.His150Gln
ENST00000682499.1:n.1664T>A
ENST00000682541.1:c.843T>A	ENSP00000507673.1:p.His281Gln
ENST00000682687.1:c.843T>A	ENSP00000507945.1:p.His281Gln
ENST00000682727.1:c.843T>A	ENSP00000507393.1:p.His281Gln
ENST00000682876.1:c.972T>A	ENSP00000508389.1:p.His324Gln
ENST00000683098.1:c.803+2797T>A	ENSP00000507670.1:n.803+2797T>A
ENST00000683258.1:c.*564T>A	ENSP00000507448.1:n.*564T>A
ENST00000683339.1:c.627T>A	ENSP00000507758.1:p.His209Gln
ENST00000683403.1:c.813+30T>A	ENSP00000507896.1:n.813+30T>A
ENST00000683429.1:c.450T>A	ENSP00000507697.1:p.His150Gln
ENST00000683665.1:c.843T>A	ENSP00000507068.1:p.His281Gln
ENST00000683789.1:c.729T>A	ENSP00000507012.1:p.His243Gln
ENST00000683847.1:n.687T>A
ENST00000683882.1:c.843T>A	ENSP00000506735.1:p.His281Gln
ENST00000684024.1:c.*514T>A	ENSP00000507175.1:n.*514T>A
ENST00000684254.1:c.*569T>A	ENSP00000508001.1:n.*569T>A
ENST00000684310.1:c.105T>A	ENSP00000507550.1:p.His35Gln
ENST00000684530.1:c.105T>A	ENSP00000507439.1:p.His35Gln
ENST00000684652.1:n.1845T>A
ENST00000340941.11:c.843T>A MANE Select	ENSP00000343657.6:p.His281Gln
ENST00000340941.10:c.843T>A	ENSP00000343657.6:p.His281Gln
ENST00000505435.3:n.194T>A
ENST00000505787.7:n.657T>A
ENST00000509358.6:c.843T>A	ENSP00000420994.2:p.His281Gln
ENST00000509539.2:c.168T>A	ENSP00000425474.2:p.His56Gln
ENST00000510895.6:n.457T>A
ENST00000512218.6:c.729T>A	ENSP00000423202.2:p.His243Gln
ENST00000629193.2:c.729T>A	ENSP00000486535.1:p.His243Gln
NM_022132.4:c.843T>A	NP_071415.1:p.His281Gln
XM_005248567.1:c.729T>A	XP_005248624.1:p.His243Gln
XM_011543528.1:c.843T>A	XP_011541830.1:p.His281Gln
XM_011543529.1:c.843T>A	XP_011541831.1:p.His281Gln
NM_001363147.1:c.729T>A	NP_001350076.1:p.His243Gln
XM_011543529.2:c.843T>A	XP_011541831.1:p.His281Gln
XM_017009688.1:c.843T>A	XP_016865177.1:p.His281Gln
XR_001742172.1:n.883T>A
NM_022132.5:c.843T>A MANE Select	NP_071415.1:p.His281Gln