Canonical Allele Identifier: CA444801188

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 1564514
• ClinVar RCV Id: RCV002212675
• dbSNP Id: rs1746875605
• MyVariant Identifiers: chr5:g.70931034A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635207A>C , CM000667.2:g.71635207A>C	GRCh38
NC_000005.9:g.70931034A>C , CM000667.1:g.70931034A>C	GRCh37
NC_000005.8:g.70966790A>C	NCBI36
NG_008882.1:g.52920A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.916A>C
ENST00000505787.8:n.2800A>C
ENST00000509358.7:c.960A>C	ENSP00000420994.3:p.Ile320=
ENST00000509539.3:c.222A>C	ENSP00000425474.3:p.Ile74=
ENST00000510895.7:n.1083A>C
ENST00000629193.3:c.846A>C	ENSP00000486535.2:p.Ile282=
ENST00000681968.1:c.453A>C	ENSP00000508143.1:p.Ile151=
ENST00000682045.1:c.816A>C	ENSP00000507329.1:p.Ile272=
ENST00000682214.1:c.567A>C	ENSP00000507336.1:p.Ile189=
ENST00000682499.1:n.1781A>C
ENST00000682541.1:c.960A>C	ENSP00000507673.1:p.Ile320=
ENST00000682687.1:c.960A>C	ENSP00000507945.1:p.Ile320=
ENST00000682727.1:c.960A>C	ENSP00000507393.1:p.Ile320=
ENST00000682876.1:c.1089A>C	ENSP00000508389.1:p.Ile363=
ENST00000683098.1:c.803+3022A>C	ENSP00000507670.1:n.803+3022A>C
ENST00000683258.1:c.*681A>C	ENSP00000507448.1:n.*681A>C
ENST00000683339.1:c.744A>C	ENSP00000507758.1:p.Ile248=
ENST00000683403.1:c.870A>C	ENSP00000507896.1:p.Ile290=
ENST00000683429.1:c.567A>C	ENSP00000507697.1:p.Ile189=
ENST00000683665.1:c.960A>C	ENSP00000507068.1:p.Ile320=
ENST00000683789.1:c.846A>C	ENSP00000507012.1:p.Ile282=
ENST00000683847.1:n.804A>C
ENST00000683882.1:c.960A>C	ENSP00000506735.1:p.Ile320=
ENST00000684024.1:c.*631A>C	ENSP00000507175.1:n.*631A>C
ENST00000684254.1:c.*686A>C	ENSP00000508001.1:n.*686A>C
ENST00000684310.1:c.165+165A>C	ENSP00000507550.1:n.165+165A>C
ENST00000684530.1:c.222A>C	ENSP00000507439.1:p.Ile74=
ENST00000684652.1:n.1962A>C
ENST00000340941.11:c.960A>C MANE Select	ENSP00000343657.6:p.Ile320=
ENST00000340941.10:c.960A>C	ENSP00000343657.6:p.Ile320=
ENST00000505435.3:n.311A>C
ENST00000509358.6:c.960A>C	ENSP00000420994.2:p.Ile320=
ENST00000509539.2:c.285A>C	ENSP00000425474.2:p.Ile95=
ENST00000510895.6:n.574A>C
ENST00000512218.6:c.846A>C	ENSP00000423202.2:p.Ile282=
ENST00000629193.2:c.846A>C	ENSP00000486535.1:p.Ile282=
NM_022132.4:c.960A>C	NP_071415.1:p.Ile320=
XM_005248567.1:c.846A>C	XP_005248624.1:p.Ile282=
XM_011543528.1:c.960A>C	XP_011541830.1:p.Ile320=
XM_011543529.1:c.960A>C	XP_011541831.1:p.Ile320=
NM_001363147.1:c.846A>C	NP_001350076.1:p.Ile282=
XM_011543529.2:c.960A>C	XP_011541831.1:p.Ile320=
XM_017009688.1:c.960A>C	XP_016865177.1:p.Ile320=
XR_001742172.1:n.1000A>C
NM_022132.5:c.960A>C MANE Select	NP_071415.1:p.Ile320=