Canonical Allele Identifier: CA560455928

Gene: MCCC2

Linked Data

• gnomAD v2: 5-70931117-C-CAAAATGCATT
• MyVariant Identifiers: chr5:g.70931117_70931118insAAAATGCATT (hg19) ; chr5:g.71635290_71635291insAAAATGCATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635290_71635291insAAAATGCATT , CM000667.2:g.71635290_71635291insAAAATGCATT	GRCh38
NC_000005.9:g.70931117_70931118insAAAATGCATT , CM000667.1:g.70931117_70931118insAAAATGCATT	GRCh37
NC_000005.8:g.70966873_70966874insAAAATGCATT	NCBI36
NG_008882.1:g.53003_53004insAAAATGCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.955+44_955+45insAAAATGCATT
ENST00000505787.8:n.2839+44_2839+45insAAAATGCATT
ENST00000509358.7:c.999+44_999+45insAAAATGCATT	ENSP00000420994.3:n.999+44_999+45insAAAATGCATT
ENST00000509539.3:c.261+44_261+45insAAAATGCATT	ENSP00000425474.3:n.261+44_261+45insAAAATGCATT
ENST00000510895.7:n.1166_1167insAAAATGCATT
ENST00000629193.3:c.885+44_885+45insAAAATGCATT	ENSP00000486535.2:n.885+44_885+45insAAAATGCATT
ENST00000681968.1:c.492+44_492+45insAAAATGCATT	ENSP00000508143.1:n.492+44_492+45insAAAATGCATT
ENST00000682045.1:c.855+44_855+45insAAAATGCATT	ENSP00000507329.1:n.855+44_855+45insAAAATGCATT
ENST00000682214.1:c.606+44_606+45insAAAATGCATT	ENSP00000507336.1:n.606+44_606+45insAAAATGCATT
ENST00000682499.1:n.1820+44_1820+45insAAAATGCATT
ENST00000682541.1:c.999+44_999+45insAAAATGCATT	ENSP00000507673.1:n.999+44_999+45insAAAATGCATT
ENST00000682687.1:c.999+44_999+45insAAAATGCATT	ENSP00000507945.1:n.999+44_999+45insAAAATGCATT
ENST00000682727.1:c.999+44_999+45insAAAATGCATT	ENSP00000507393.1:n.999+44_999+45insAAAATGCATT
ENST00000682876.1:c.1128+44_1128+45insAAAATGCATT	ENSP00000508389.1:n.1128+44_1128+45insAAAATGCATT
ENST00000683098.1:c.803+3105_803+3106insAAAATGCATT	ENSP00000507670.1:n.803+3105_803+3106insAAAATGCATT
ENST00000683258.1:c.*720+44_*720+45insAAAATGCATT	ENSP00000507448.1:n.*720+44_*720+45insAAAATGCATT
ENST00000683339.1:c.783+44_783+45insAAAATGCATT	ENSP00000507758.1:n.783+44_783+45insAAAATGCATT
ENST00000683403.1:c.909+44_909+45insAAAATGCATT	ENSP00000507896.1:n.909+44_909+45insAAAATGCATT
ENST00000683429.1:c.606+44_606+45insAAAATGCATT	ENSP00000507697.1:n.606+44_606+45insAAAATGCATT
ENST00000683665.1:c.999+44_999+45insAAAATGCATT	ENSP00000507068.1:n.999+44_999+45insAAAATGCATT
ENST00000683789.1:c.885+44_885+45insAAAATGCATT	ENSP00000507012.1:n.885+44_885+45insAAAATGCATT
ENST00000683847.1:n.843+44_843+45insAAAATGCATT
ENST00000683882.1:c.999+44_999+45insAAAATGCATT	ENSP00000506735.1:n.999+44_999+45insAAAATGCATT
ENST00000684024.1:c.*670+44_*670+45insAAAATGCATT	ENSP00000507175.1:n.*670+44_*670+45insAAAATGCATT
ENST00000684254.1:c.*725+44_*725+45insAAAATGCATT	ENSP00000508001.1:n.*725+44_*725+45insAAAATGCATT
ENST00000684310.1:c.165+248_165+249insAAAATGCATT	ENSP00000507550.1:n.165+248_165+249insAAAATGCATT
ENST00000684530.1:c.261+44_261+45insAAAATGCATT	ENSP00000507439.1:n.261+44_261+45insAAAATGCATT
ENST00000684652.1:n.2045_2046insAAAATGCATT
ENST00000340941.11:c.999+44_999+45insAAAATGCATT MANE Select	ENSP00000343657.6:n.999+44_999+45insAAAATGCATT
ENST00000340941.10:c.999+44_999+45insAAAATGCATT	ENSP00000343657.6:n.999+44_999+45insAAAATGCATT
ENST00000505435.3:n.350+44_350+45insAAAATGCATT
ENST00000509358.6:c.999+44_999+45insAAAATGCATT	ENSP00000420994.2:n.999+44_999+45insAAAATGCATT
ENST00000509539.2:c.324+44_324+45insAAAATGCATT	ENSP00000425474.2:n.324+44_324+45insAAAATGCATT
ENST00000510895.6:n.657_658insAAAATGCATT
ENST00000512218.6:c.885+44_885+45insAAAATGCATT	ENSP00000423202.2:n.885+44_885+45insAAAATGCATT
ENST00000629193.2:c.885+44_885+45insAAAATGCATT	ENSP00000486535.1:n.885+44_885+45insAAAATGCATT
NM_022132.4:c.999+44_999+45insAAAATGCATT	NP_071415.1:n.999+44_999+45insAAAATGCATT
XM_005248567.1:c.885+44_885+45insAAAATGCATT	XP_005248624.1:n.885+44_885+45insAAAATGCATT
XM_011543528.1:c.999+44_999+45insAAAATGCATT	XP_011541830.1:n.999+44_999+45insAAAATGCATT
XM_011543529.1:c.999+44_999+45insAAAATGCATT	XP_011541831.1:n.999+44_999+45insAAAATGCATT
NM_001363147.1:c.885+44_885+45insAAAATGCATT	NP_001350076.1:n.885+44_885+45insAAAATGCATT
XM_011543529.2:c.999+44_999+45insAAAATGCATT	XP_011541831.1:n.999+44_999+45insAAAATGCATT
XM_017009688.1:c.999+44_999+45insAAAATGCATT	XP_016865177.1:n.999+44_999+45insAAAATGCATT
XR_001742172.1:n.1039+44_1039+45insAAAATGCATT
NM_022132.5:c.999+44_999+45insAAAATGCATT MANE Select	NP_071415.1:n.999+44_999+45insAAAATGCATT