Canonical Allele Identifier: CA359987683

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931028T>A (hg19) ; chr5:g.71635201T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635201T>A , CM000667.2:g.71635201T>A	GRCh38
NC_000005.9:g.70931028T>A , CM000667.1:g.70931028T>A	GRCh37
NC_000005.8:g.70966784T>A	NCBI36
NG_008882.1:g.52914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.910T>A
ENST00000505787.8:n.2794T>A
ENST00000509358.7:c.954T>A	ENSP00000420994.3:p.Tyr318Ter
ENST00000509539.3:c.216T>A	ENSP00000425474.3:p.Tyr72Ter
ENST00000510895.7:n.1077T>A
ENST00000629193.3:c.840T>A	ENSP00000486535.2:p.Tyr280Ter
ENST00000681968.1:c.447T>A	ENSP00000508143.1:p.Tyr149Ter
ENST00000682045.1:c.810T>A	ENSP00000507329.1:p.Tyr270Ter
ENST00000682214.1:c.561T>A	ENSP00000507336.1:p.Tyr187Ter
ENST00000682499.1:n.1775T>A
ENST00000682541.1:c.954T>A	ENSP00000507673.1:p.Tyr318Ter
ENST00000682687.1:c.954T>A	ENSP00000507945.1:p.Tyr318Ter
ENST00000682727.1:c.954T>A	ENSP00000507393.1:p.Tyr318Ter
ENST00000682876.1:c.1083T>A	ENSP00000508389.1:p.Tyr361Ter
ENST00000683098.1:c.803+3016T>A	ENSP00000507670.1:n.803+3016T>A
ENST00000683258.1:c.*675T>A	ENSP00000507448.1:n.*675T>A
ENST00000683339.1:c.738T>A	ENSP00000507758.1:p.Tyr246Ter
ENST00000683403.1:c.864T>A	ENSP00000507896.1:p.Tyr288Ter
ENST00000683429.1:c.561T>A	ENSP00000507697.1:p.Tyr187Ter
ENST00000683665.1:c.954T>A	ENSP00000507068.1:p.Tyr318Ter
ENST00000683789.1:c.840T>A	ENSP00000507012.1:p.Tyr280Ter
ENST00000683847.1:n.798T>A
ENST00000683882.1:c.954T>A	ENSP00000506735.1:p.Tyr318Ter
ENST00000684024.1:c.*625T>A	ENSP00000507175.1:n.*625T>A
ENST00000684254.1:c.*680T>A	ENSP00000508001.1:n.*680T>A
ENST00000684310.1:c.165+159T>A	ENSP00000507550.1:n.165+159T>A
ENST00000684530.1:c.216T>A	ENSP00000507439.1:p.Tyr72Ter
ENST00000684652.1:n.1956T>A
ENST00000340941.11:c.954T>A MANE Select	ENSP00000343657.6:p.Tyr318Ter
ENST00000340941.10:c.954T>A	ENSP00000343657.6:p.Tyr318Ter
ENST00000505435.3:n.305T>A
ENST00000509358.6:c.954T>A	ENSP00000420994.2:p.Tyr318Ter
ENST00000509539.2:c.279T>A	ENSP00000425474.2:p.Tyr93Ter
ENST00000510895.6:n.568T>A
ENST00000512218.6:c.840T>A	ENSP00000423202.2:p.Tyr280Ter
ENST00000629193.2:c.840T>A	ENSP00000486535.1:p.Tyr280Ter
NM_022132.4:c.954T>A	NP_071415.1:p.Tyr318Ter
XM_005248567.1:c.840T>A	XP_005248624.1:p.Tyr280Ter
XM_011543528.1:c.954T>A	XP_011541830.1:p.Tyr318Ter
XM_011543529.1:c.954T>A	XP_011541831.1:p.Tyr318Ter
NM_001363147.1:c.840T>A	NP_001350076.1:p.Tyr280Ter
XM_011543529.2:c.954T>A	XP_011541831.1:p.Tyr318Ter
XM_017009688.1:c.954T>A	XP_016865177.1:p.Tyr318Ter
XR_001742172.1:n.994T>A
NM_022132.5:c.954T>A MANE Select	NP_071415.1:p.Tyr318Ter