Canonical Allele Identifier: CA359987452

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930991C>T (hg19) ; chr5:g.71635164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635164C>T , CM000667.2:g.71635164C>T	GRCh38
NC_000005.9:g.70930991C>T , CM000667.1:g.70930991C>T	GRCh37
NC_000005.8:g.70966747C>T	NCBI36
NG_008882.1:g.52877C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.873C>T
ENST00000505787.8:n.2757C>T
ENST00000509358.7:c.917C>T	ENSP00000420994.3:p.Pro306Leu
ENST00000509539.3:c.179C>T	ENSP00000425474.3:p.Pro60Leu
ENST00000510895.7:n.1040C>T
ENST00000629193.3:c.803C>T	ENSP00000486535.2:p.Pro268Leu
ENST00000681968.1:c.410C>T	ENSP00000508143.1:p.Pro137Leu
ENST00000682045.1:c.773C>T	ENSP00000507329.1:p.Pro258Leu
ENST00000682214.1:c.524C>T	ENSP00000507336.1:p.Pro175Leu
ENST00000682499.1:n.1738C>T
ENST00000682541.1:c.917C>T	ENSP00000507673.1:p.Pro306Leu
ENST00000682687.1:c.917C>T	ENSP00000507945.1:p.Pro306Leu
ENST00000682727.1:c.917C>T	ENSP00000507393.1:p.Pro306Leu
ENST00000682876.1:c.1046C>T	ENSP00000508389.1:p.Pro349Leu
ENST00000683098.1:c.803+2979C>T	ENSP00000507670.1:n.803+2979C>T
ENST00000683258.1:c.*638C>T	ENSP00000507448.1:n.*638C>T
ENST00000683339.1:c.701C>T	ENSP00000507758.1:p.Pro234Leu
ENST00000683403.1:c.827C>T	ENSP00000507896.1:p.Pro276Leu
ENST00000683429.1:c.524C>T	ENSP00000507697.1:p.Pro175Leu
ENST00000683665.1:c.917C>T	ENSP00000507068.1:p.Pro306Leu
ENST00000683789.1:c.803C>T	ENSP00000507012.1:p.Pro268Leu
ENST00000683847.1:n.761C>T
ENST00000683882.1:c.917C>T	ENSP00000506735.1:p.Pro306Leu
ENST00000684024.1:c.*588C>T	ENSP00000507175.1:n.*588C>T
ENST00000684254.1:c.*643C>T	ENSP00000508001.1:n.*643C>T
ENST00000684310.1:c.165+122C>T	ENSP00000507550.1:n.165+122C>T
ENST00000684530.1:c.179C>T	ENSP00000507439.1:p.Pro60Leu
ENST00000684652.1:n.1919C>T
ENST00000340941.11:c.917C>T MANE Select	ENSP00000343657.6:p.Pro306Leu
ENST00000340941.10:c.917C>T	ENSP00000343657.6:p.Pro306Leu
ENST00000505435.3:n.268C>T
ENST00000509358.6:c.917C>T	ENSP00000420994.2:p.Pro306Leu
ENST00000509539.2:c.242C>T	ENSP00000425474.2:p.Pro81Leu
ENST00000510895.6:n.531C>T
ENST00000512218.6:c.803C>T	ENSP00000423202.2:p.Pro268Leu
ENST00000629193.2:c.803C>T	ENSP00000486535.1:p.Pro268Leu
NM_022132.4:c.917C>T	NP_071415.1:p.Pro306Leu
XM_005248567.1:c.803C>T	XP_005248624.1:p.Pro268Leu
XM_011543528.1:c.917C>T	XP_011541830.1:p.Pro306Leu
XM_011543529.1:c.917C>T	XP_011541831.1:p.Pro306Leu
NM_001363147.1:c.803C>T	NP_001350076.1:p.Pro268Leu
XM_011543529.2:c.917C>T	XP_011541831.1:p.Pro306Leu
XM_017009688.1:c.917C>T	XP_016865177.1:p.Pro306Leu
XR_001742172.1:n.957C>T
NM_022132.5:c.917C>T MANE Select	NP_071415.1:p.Pro306Leu