Canonical Allele Identifier: CA560455941

Gene: MCCC2

Linked Data

• gnomAD v2: 5-70931181-G-GATC
• MyVariant Identifiers: chr5:g.70931181_70931182insATC (hg19) ; chr5:g.71635354_71635355insATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635356_71635357insCAT , CM000667.2:g.71635356_71635357insCAT	GRCh38
NC_000005.9:g.70931183_70931184insCAT , CM000667.1:g.70931183_70931184insCAT	GRCh37
NC_000005.8:g.70966939_70966940insCAT	NCBI36
NG_008882.1:g.53069_53070insCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.955+110_955+111insCAT
ENST00000505787.8:n.2839+110_2839+111insCAT
ENST00000509358.7:c.999+110_999+111insCAT	ENSP00000420994.3:n.999+110_999+111insCAT
ENST00000509539.3:c.261+110_261+111insCAT	ENSP00000425474.3:n.261+110_261+111insCAT
ENST00000510895.7:n.1232_1233insCAT
ENST00000629193.3:c.885+110_885+111insCAT	ENSP00000486535.2:n.885+110_885+111insCAT
ENST00000681968.1:c.492+110_492+111insCAT	ENSP00000508143.1:n.492+110_492+111insCAT
ENST00000682045.1:c.855+110_855+111insCAT	ENSP00000507329.1:n.855+110_855+111insCAT
ENST00000682214.1:c.606+110_606+111insCAT	ENSP00000507336.1:n.606+110_606+111insCAT
ENST00000682499.1:n.1820+110_1820+111insCAT
ENST00000682541.1:c.999+110_999+111insCAT	ENSP00000507673.1:n.999+110_999+111insCAT
ENST00000682687.1:c.999+110_999+111insCAT	ENSP00000507945.1:n.999+110_999+111insCAT
ENST00000682727.1:c.999+110_999+111insCAT	ENSP00000507393.1:n.999+110_999+111insCAT
ENST00000682876.1:c.1128+110_1128+111insCAT	ENSP00000508389.1:n.1128+110_1128+111insCAT
ENST00000683098.1:c.803+3171_803+3172insCAT	ENSP00000507670.1:n.803+3171_803+3172insCAT
ENST00000683258.1:c.*720+110_*720+111insCAT	ENSP00000507448.1:n.*720+110_*720+111insCAT
ENST00000683339.1:c.783+110_783+111insCAT	ENSP00000507758.1:n.783+110_783+111insCAT
ENST00000683403.1:c.909+110_909+111insCAT	ENSP00000507896.1:n.909+110_909+111insCAT
ENST00000683429.1:c.606+110_606+111insCAT	ENSP00000507697.1:n.606+110_606+111insCAT
ENST00000683665.1:c.999+110_999+111insCAT	ENSP00000507068.1:n.999+110_999+111insCAT
ENST00000683789.1:c.885+110_885+111insCAT	ENSP00000507012.1:n.885+110_885+111insCAT
ENST00000683847.1:n.843+110_843+111insCAT
ENST00000683882.1:c.999+110_999+111insCAT	ENSP00000506735.1:n.999+110_999+111insCAT
ENST00000684024.1:c.*670+110_*670+111insCAT	ENSP00000507175.1:n.*670+110_*670+111insCAT
ENST00000684254.1:c.*725+110_*725+111insCAT	ENSP00000508001.1:n.*725+110_*725+111insCAT
ENST00000684310.1:c.165+314_165+315insCAT	ENSP00000507550.1:n.165+314_165+315insCAT
ENST00000684530.1:c.261+110_261+111insCAT	ENSP00000507439.1:n.261+110_261+111insCAT
ENST00000684652.1:n.2111_2112insCAT
ENST00000340941.11:c.999+110_999+111insCAT MANE Select	ENSP00000343657.6:n.999+110_999+111insCAT
ENST00000340941.10:c.999+110_999+111insCAT	ENSP00000343657.6:n.999+110_999+111insCAT
ENST00000505435.3:n.350+110_350+111insCAT
ENST00000509358.6:c.999+110_999+111insCAT	ENSP00000420994.2:n.999+110_999+111insCAT
ENST00000509539.2:c.324+110_324+111insCAT	ENSP00000425474.2:n.324+110_324+111insCAT
ENST00000510895.6:n.723_724insCAT
ENST00000512218.6:c.885+110_885+111insCAT	ENSP00000423202.2:n.885+110_885+111insCAT
ENST00000629193.2:c.885+110_885+111insCAT	ENSP00000486535.1:n.885+110_885+111insCAT
NM_022132.4:c.999+110_999+111insCAT	NP_071415.1:n.999+110_999+111insCAT
XM_005248567.1:c.885+110_885+111insCAT	XP_005248624.1:n.885+110_885+111insCAT
XM_011543528.1:c.999+110_999+111insCAT	XP_011541830.1:n.999+110_999+111insCAT
XM_011543529.1:c.999+110_999+111insCAT	XP_011541831.1:n.999+110_999+111insCAT
NM_001363147.1:c.885+110_885+111insCAT	NP_001350076.1:n.885+110_885+111insCAT
XM_011543529.2:c.999+110_999+111insCAT	XP_011541831.1:n.999+110_999+111insCAT
XM_017009688.1:c.999+110_999+111insCAT	XP_016865177.1:n.999+110_999+111insCAT
XR_001742172.1:n.1039+110_1039+111insCAT
NM_022132.5:c.999+110_999+111insCAT MANE Select	NP_071415.1:n.999+110_999+111insCAT