Canonical Allele Identifier: CA359986075

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930775C>T (hg19) ; chr5:g.71634948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634948C>T , CM000667.2:g.71634948C>T	GRCh38
NC_000005.9:g.70930775C>T , CM000667.1:g.70930775C>T	GRCh37
NC_000005.8:g.70966531C>T	NCBI36
NG_008882.1:g.52661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.765C>T
ENST00000505787.8:n.2649C>T
ENST00000509358.7:c.809C>T	ENSP00000420994.3:p.Ser270Phe
ENST00000509539.3:c.71C>T	ENSP00000425474.3:p.Ser24Phe
ENST00000510895.7:n.932C>T
ENST00000629193.3:c.695C>T	ENSP00000486535.2:p.Ser232Phe
ENST00000681968.1:c.302C>T	ENSP00000508143.1:p.Ser101Phe
ENST00000682045.1:c.665C>T	ENSP00000507329.1:p.Ser222Phe
ENST00000682214.1:c.416C>T	ENSP00000507336.1:p.Ser139Phe
ENST00000682499.1:n.1630C>T
ENST00000682541.1:c.809C>T	ENSP00000507673.1:p.Ser270Phe
ENST00000682687.1:c.809C>T	ENSP00000507945.1:p.Ser270Phe
ENST00000682727.1:c.809C>T	ENSP00000507393.1:p.Ser270Phe
ENST00000682876.1:c.938C>T	ENSP00000508389.1:p.Ser313Phe
ENST00000683098.1:c.803+2763C>T	ENSP00000507670.1:n.803+2763C>T
ENST00000683258.1:c.*530C>T	ENSP00000507448.1:n.*530C>T
ENST00000683339.1:c.593C>T	ENSP00000507758.1:p.Ser198Phe
ENST00000683403.1:c.809C>T	ENSP00000507896.1:p.Ser270Phe
ENST00000683429.1:c.416C>T	ENSP00000507697.1:p.Ser139Phe
ENST00000683665.1:c.809C>T	ENSP00000507068.1:p.Ser270Phe
ENST00000683789.1:c.695C>T	ENSP00000507012.1:p.Ser232Phe
ENST00000683847.1:n.653C>T
ENST00000683882.1:c.809C>T	ENSP00000506735.1:p.Ser270Phe
ENST00000684024.1:c.*480C>T	ENSP00000507175.1:n.*480C>T
ENST00000684254.1:c.*535C>T	ENSP00000508001.1:n.*535C>T
ENST00000684310.1:c.71C>T	ENSP00000507550.1:p.Ser24Phe
ENST00000684530.1:c.71C>T	ENSP00000507439.1:p.Ser24Phe
ENST00000684652.1:n.1811C>T
ENST00000340941.11:c.809C>T MANE Select	ENSP00000343657.6:p.Ser270Phe
ENST00000340941.10:c.809C>T	ENSP00000343657.6:p.Ser270Phe
ENST00000505435.3:n.160C>T
ENST00000505787.7:n.623C>T
ENST00000509358.6:c.809C>T	ENSP00000420994.2:p.Ser270Phe
ENST00000509539.2:c.134C>T	ENSP00000425474.2:p.Ser45Phe
ENST00000510895.6:n.423C>T
ENST00000512218.6:c.695C>T	ENSP00000423202.2:p.Ser232Phe
ENST00000629193.2:c.695C>T	ENSP00000486535.1:p.Ser232Phe
NM_022132.4:c.809C>T	NP_071415.1:p.Ser270Phe
XM_005248567.1:c.695C>T	XP_005248624.1:p.Ser232Phe
XM_011543528.1:c.809C>T	XP_011541830.1:p.Ser270Phe
XM_011543529.1:c.809C>T	XP_011541831.1:p.Ser270Phe
NM_001363147.1:c.695C>T	NP_001350076.1:p.Ser232Phe
XM_011543529.2:c.809C>T	XP_011541831.1:p.Ser270Phe
XM_017009688.1:c.809C>T	XP_016865177.1:p.Ser270Phe
XR_001742172.1:n.849C>T
NM_022132.5:c.809C>T MANE Select	NP_071415.1:p.Ser270Phe