Canonical Allele Identifier: CA359987618

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 1210431
• ClinVar RCV Id: RCV001580734
• dbSNP Id: rs2112438294
• MyVariant Identifiers: chr5:g.70931014G>A (hg19) ; chr5:g.71635187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635187G>A , CM000667.2:g.71635187G>A	GRCh38
NC_000005.9:g.70931014G>A , CM000667.1:g.70931014G>A	GRCh37
NC_000005.8:g.70966770G>A	NCBI36
NG_008882.1:g.52900G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.896G>A
ENST00000505787.8:n.2780G>A
ENST00000509358.7:c.940G>A	ENSP00000420994.3:p.Ala314Thr
ENST00000509539.3:c.202G>A	ENSP00000425474.3:p.Ala68Thr
ENST00000510895.7:n.1063G>A
ENST00000629193.3:c.826G>A	ENSP00000486535.2:p.Ala276Thr
ENST00000681968.1:c.433G>A	ENSP00000508143.1:p.Ala145Thr
ENST00000682045.1:c.796G>A	ENSP00000507329.1:p.Ala266Thr
ENST00000682214.1:c.547G>A	ENSP00000507336.1:p.Ala183Thr
ENST00000682499.1:n.1761G>A
ENST00000682541.1:c.940G>A	ENSP00000507673.1:p.Ala314Thr
ENST00000682687.1:c.940G>A	ENSP00000507945.1:p.Ala314Thr
ENST00000682727.1:c.940G>A	ENSP00000507393.1:p.Ala314Thr
ENST00000682876.1:c.1069G>A	ENSP00000508389.1:p.Ala357Thr
ENST00000683098.1:c.803+3002G>A	ENSP00000507670.1:n.803+3002G>A
ENST00000683258.1:c.*661G>A	ENSP00000507448.1:n.*661G>A
ENST00000683339.1:c.724G>A	ENSP00000507758.1:p.Ala242Thr
ENST00000683403.1:c.850G>A	ENSP00000507896.1:p.Ala284Thr
ENST00000683429.1:c.547G>A	ENSP00000507697.1:p.Ala183Thr
ENST00000683665.1:c.940G>A	ENSP00000507068.1:p.Ala314Thr
ENST00000683789.1:c.826G>A	ENSP00000507012.1:p.Ala276Thr
ENST00000683847.1:n.784G>A
ENST00000683882.1:c.940G>A	ENSP00000506735.1:p.Ala314Thr
ENST00000684024.1:c.*611G>A	ENSP00000507175.1:n.*611G>A
ENST00000684254.1:c.*666G>A	ENSP00000508001.1:n.*666G>A
ENST00000684310.1:c.165+145G>A	ENSP00000507550.1:n.165+145G>A
ENST00000684530.1:c.202G>A	ENSP00000507439.1:p.Ala68Thr
ENST00000684652.1:n.1942G>A
ENST00000340941.11:c.940G>A MANE Select	ENSP00000343657.6:p.Ala314Thr
ENST00000340941.10:c.940G>A	ENSP00000343657.6:p.Ala314Thr
ENST00000505435.3:n.291G>A
ENST00000509358.6:c.940G>A	ENSP00000420994.2:p.Ala314Thr
ENST00000509539.2:c.265G>A	ENSP00000425474.2:p.Ala89Thr
ENST00000510895.6:n.554G>A
ENST00000512218.6:c.826G>A	ENSP00000423202.2:p.Ala276Thr
ENST00000629193.2:c.826G>A	ENSP00000486535.1:p.Ala276Thr
NM_022132.4:c.940G>A	NP_071415.1:p.Ala314Thr
XM_005248567.1:c.826G>A	XP_005248624.1:p.Ala276Thr
XM_011543528.1:c.940G>A	XP_011541830.1:p.Ala314Thr
XM_011543529.1:c.940G>A	XP_011541831.1:p.Ala314Thr
NM_001363147.1:c.826G>A	NP_001350076.1:p.Ala276Thr
XM_011543529.2:c.940G>A	XP_011541831.1:p.Ala314Thr
XM_017009688.1:c.940G>A	XP_016865177.1:p.Ala314Thr
XR_001742172.1:n.980G>A
NM_022132.5:c.940G>A MANE Select	NP_071415.1:p.Ala314Thr