Canonical Allele Identifier: CA359987758

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71635220-C-G
• MyVariant Identifiers: chr5:g.70931047C>G (hg19) ; chr5:g.71635220C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635220C>G , CM000667.2:g.71635220C>G	GRCh38
NC_000005.9:g.70931047C>G , CM000667.1:g.70931047C>G	GRCh37
NC_000005.8:g.70966803C>G	NCBI36
NG_008882.1:g.52933C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.929C>G
ENST00000505787.8:n.2813C>G
ENST00000509358.7:c.973C>G	ENSP00000420994.3:p.Leu325Val
ENST00000509539.3:c.235C>G	ENSP00000425474.3:p.Leu79Val
ENST00000510895.7:n.1096C>G
ENST00000629193.3:c.859C>G	ENSP00000486535.2:p.Leu287Val
ENST00000681968.1:c.466C>G	ENSP00000508143.1:p.Leu156Val
ENST00000682045.1:c.829C>G	ENSP00000507329.1:p.Leu277Val
ENST00000682214.1:c.580C>G	ENSP00000507336.1:p.Leu194Val
ENST00000682499.1:n.1794C>G
ENST00000682541.1:c.973C>G	ENSP00000507673.1:p.Leu325Val
ENST00000682687.1:c.973C>G	ENSP00000507945.1:p.Leu325Val
ENST00000682727.1:c.973C>G	ENSP00000507393.1:p.Leu325Val
ENST00000682876.1:c.1102C>G	ENSP00000508389.1:p.Leu368Val
ENST00000683098.1:c.803+3035C>G	ENSP00000507670.1:n.803+3035C>G
ENST00000683258.1:c.*694C>G	ENSP00000507448.1:n.*694C>G
ENST00000683339.1:c.757C>G	ENSP00000507758.1:p.Leu253Val
ENST00000683403.1:c.883C>G	ENSP00000507896.1:p.Leu295Val
ENST00000683429.1:c.580C>G	ENSP00000507697.1:p.Leu194Val
ENST00000683665.1:c.973C>G	ENSP00000507068.1:p.Leu325Val
ENST00000683789.1:c.859C>G	ENSP00000507012.1:p.Leu287Val
ENST00000683847.1:n.817C>G
ENST00000683882.1:c.973C>G	ENSP00000506735.1:p.Leu325Val
ENST00000684024.1:c.*644C>G	ENSP00000507175.1:n.*644C>G
ENST00000684254.1:c.*699C>G	ENSP00000508001.1:n.*699C>G
ENST00000684310.1:c.165+178C>G	ENSP00000507550.1:n.165+178C>G
ENST00000684530.1:c.235C>G	ENSP00000507439.1:p.Leu79Val
ENST00000684652.1:n.1975C>G
ENST00000340941.11:c.973C>G MANE Select	ENSP00000343657.6:p.Leu325Val
ENST00000340941.10:c.973C>G	ENSP00000343657.6:p.Leu325Val
ENST00000505435.3:n.324C>G
ENST00000509358.6:c.973C>G	ENSP00000420994.2:p.Leu325Val
ENST00000509539.2:c.298C>G	ENSP00000425474.2:p.Leu100Val
ENST00000510895.6:n.587C>G
ENST00000512218.6:c.859C>G	ENSP00000423202.2:p.Leu287Val
ENST00000629193.2:c.859C>G	ENSP00000486535.1:p.Leu287Val
NM_022132.4:c.973C>G	NP_071415.1:p.Leu325Val
XM_005248567.1:c.859C>G	XP_005248624.1:p.Leu287Val
XM_011543528.1:c.973C>G	XP_011541830.1:p.Leu325Val
XM_011543529.1:c.973C>G	XP_011541831.1:p.Leu325Val
NM_001363147.1:c.859C>G	NP_001350076.1:p.Leu287Val
XM_011543529.2:c.973C>G	XP_011541831.1:p.Leu325Val
XM_017009688.1:c.973C>G	XP_016865177.1:p.Leu325Val
XR_001742172.1:n.1013C>G
NM_022132.5:c.973C>G MANE Select	NP_071415.1:p.Leu325Val