Canonical Allele Identifier: CA359987402

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930984A>T (hg19) ; chr5:g.71635157A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635157A>T , CM000667.2:g.71635157A>T	GRCh38
NC_000005.9:g.70930984A>T , CM000667.1:g.70930984A>T	GRCh37
NC_000005.8:g.70966740A>T	NCBI36
NG_008882.1:g.52870A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.866A>T
ENST00000505787.8:n.2750A>T
ENST00000509358.7:c.910A>T	ENSP00000420994.3:p.Ile304Phe
ENST00000509539.3:c.172A>T	ENSP00000425474.3:p.Ile58Phe
ENST00000510895.7:n.1033A>T
ENST00000629193.3:c.796A>T	ENSP00000486535.2:p.Ile266Phe
ENST00000681968.1:c.403A>T	ENSP00000508143.1:p.Ile135Phe
ENST00000682045.1:c.766A>T	ENSP00000507329.1:p.Ile256Phe
ENST00000682214.1:c.517A>T	ENSP00000507336.1:p.Ile173Phe
ENST00000682499.1:n.1731A>T
ENST00000682541.1:c.910A>T	ENSP00000507673.1:p.Ile304Phe
ENST00000682687.1:c.910A>T	ENSP00000507945.1:p.Ile304Phe
ENST00000682727.1:c.910A>T	ENSP00000507393.1:p.Ile304Phe
ENST00000682876.1:c.1039A>T	ENSP00000508389.1:p.Ile347Phe
ENST00000683098.1:c.803+2972A>T	ENSP00000507670.1:n.803+2972A>T
ENST00000683258.1:c.*631A>T	ENSP00000507448.1:n.*631A>T
ENST00000683339.1:c.694A>T	ENSP00000507758.1:p.Ile232Phe
ENST00000683403.1:c.820A>T	ENSP00000507896.1:p.Ile274Phe
ENST00000683429.1:c.517A>T	ENSP00000507697.1:p.Ile173Phe
ENST00000683665.1:c.910A>T	ENSP00000507068.1:p.Ile304Phe
ENST00000683789.1:c.796A>T	ENSP00000507012.1:p.Ile266Phe
ENST00000683847.1:n.754A>T
ENST00000683882.1:c.910A>T	ENSP00000506735.1:p.Ile304Phe
ENST00000684024.1:c.*581A>T	ENSP00000507175.1:n.*581A>T
ENST00000684254.1:c.*636A>T	ENSP00000508001.1:n.*636A>T
ENST00000684310.1:c.165+115A>T	ENSP00000507550.1:n.165+115A>T
ENST00000684530.1:c.172A>T	ENSP00000507439.1:p.Ile58Phe
ENST00000684652.1:n.1912A>T
ENST00000340941.11:c.910A>T MANE Select	ENSP00000343657.6:p.Ile304Phe
ENST00000340941.10:c.910A>T	ENSP00000343657.6:p.Ile304Phe
ENST00000505435.3:n.261A>T
ENST00000509358.6:c.910A>T	ENSP00000420994.2:p.Ile304Phe
ENST00000509539.2:c.235A>T	ENSP00000425474.2:p.Ile79Phe
ENST00000510895.6:n.524A>T
ENST00000512218.6:c.796A>T	ENSP00000423202.2:p.Ile266Phe
ENST00000629193.2:c.796A>T	ENSP00000486535.1:p.Ile266Phe
NM_022132.4:c.910A>T	NP_071415.1:p.Ile304Phe
XM_005248567.1:c.796A>T	XP_005248624.1:p.Ile266Phe
XM_011543528.1:c.910A>T	XP_011541830.1:p.Ile304Phe
XM_011543529.1:c.910A>T	XP_011541831.1:p.Ile304Phe
NM_001363147.1:c.796A>T	NP_001350076.1:p.Ile266Phe
XM_011543529.2:c.910A>T	XP_011541831.1:p.Ile304Phe
XM_017009688.1:c.910A>T	XP_016865177.1:p.Ile304Phe
XR_001742172.1:n.950A>T
NM_022132.5:c.910A>T MANE Select	NP_071415.1:p.Ile304Phe