Canonical Allele Identifier: CA444801226

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 1118621
• ClinVar RCV Id: RCV001447761
• dbSNP Id: rs2112438541
• MyVariant Identifiers: chr5:g.70931061T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635234T>C , CM000667.2:g.71635234T>C	GRCh38
NC_000005.9:g.70931061T>C , CM000667.1:g.70931061T>C	GRCh37
NC_000005.8:g.70966817T>C	NCBI36
NG_008882.1:g.52947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.943T>C
ENST00000505787.8:n.2827T>C
ENST00000509358.7:c.987T>C	ENSP00000420994.3:p.Phe329=
ENST00000509539.3:c.249T>C	ENSP00000425474.3:p.Phe83=
ENST00000510895.7:n.1110T>C
ENST00000629193.3:c.873T>C	ENSP00000486535.2:p.Phe291=
ENST00000681968.1:c.480T>C	ENSP00000508143.1:p.Phe160=
ENST00000682045.1:c.843T>C	ENSP00000507329.1:p.Phe281=
ENST00000682214.1:c.594T>C	ENSP00000507336.1:p.Phe198=
ENST00000682499.1:n.1808T>C
ENST00000682541.1:c.987T>C	ENSP00000507673.1:p.Phe329=
ENST00000682687.1:c.987T>C	ENSP00000507945.1:p.Phe329=
ENST00000682727.1:c.987T>C	ENSP00000507393.1:p.Phe329=
ENST00000682876.1:c.1116T>C	ENSP00000508389.1:p.Phe372=
ENST00000683098.1:c.803+3049T>C	ENSP00000507670.1:n.803+3049T>C
ENST00000683258.1:c.*708T>C	ENSP00000507448.1:n.*708T>C
ENST00000683339.1:c.771T>C	ENSP00000507758.1:p.Phe257=
ENST00000683403.1:c.897T>C	ENSP00000507896.1:p.Phe299=
ENST00000683429.1:c.594T>C	ENSP00000507697.1:p.Phe198=
ENST00000683665.1:c.987T>C	ENSP00000507068.1:p.Phe329=
ENST00000683789.1:c.873T>C	ENSP00000507012.1:p.Phe291=
ENST00000683847.1:n.831T>C
ENST00000683882.1:c.987T>C	ENSP00000506735.1:p.Phe329=
ENST00000684024.1:c.*658T>C	ENSP00000507175.1:n.*658T>C
ENST00000684254.1:c.*713T>C	ENSP00000508001.1:n.*713T>C
ENST00000684310.1:c.165+192T>C	ENSP00000507550.1:n.165+192T>C
ENST00000684530.1:c.249T>C	ENSP00000507439.1:p.Phe83=
ENST00000684652.1:n.1989T>C
ENST00000340941.11:c.987T>C MANE Select	ENSP00000343657.6:p.Phe329=
ENST00000340941.10:c.987T>C	ENSP00000343657.6:p.Phe329=
ENST00000505435.3:n.338T>C
ENST00000509358.6:c.987T>C	ENSP00000420994.2:p.Phe329=
ENST00000509539.2:c.312T>C	ENSP00000425474.2:p.Phe104=
ENST00000510895.6:n.601T>C
ENST00000512218.6:c.873T>C	ENSP00000423202.2:p.Phe291=
ENST00000629193.2:c.873T>C	ENSP00000486535.1:p.Phe291=
NM_022132.4:c.987T>C	NP_071415.1:p.Phe329=
XM_005248567.1:c.873T>C	XP_005248624.1:p.Phe291=
XM_011543528.1:c.987T>C	XP_011541830.1:p.Phe329=
XM_011543529.1:c.987T>C	XP_011541831.1:p.Phe329=
NM_001363147.1:c.873T>C	NP_001350076.1:p.Phe291=
XM_011543529.2:c.987T>C	XP_011541831.1:p.Phe329=
XM_017009688.1:c.987T>C	XP_016865177.1:p.Phe329=
XR_001742172.1:n.1027T>C
NM_022132.5:c.987T>C MANE Select	NP_071415.1:p.Phe329=