Canonical Allele Identifier: CA560455933

Gene: MCCC2

Linked Data

• dbSNP Id: rs1376583080
• gnomAD v2: 5-70931142-A-ATGTGT
• gnomAD v4: 5-71635315-A-ATGTGT
• MyVariant Identifiers: chr5:g.70931142_70931143insTGTGT (hg19) ; chr5:g.71635315_71635316insTGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635315_71635316insTGTGT , CM000667.2:g.71635315_71635316insTGTGT	GRCh38
NC_000005.9:g.70931142_70931143insTGTGT , CM000667.1:g.70931142_70931143insTGTGT	GRCh37
NC_000005.8:g.70966898_70966899insTGTGT	NCBI36
NG_008882.1:g.53028_53029insTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.955+69_955+70insTGTGT
ENST00000505787.8:n.2839+69_2839+70insTGTGT
ENST00000509358.7:c.999+69_999+70insTGTGT	ENSP00000420994.3:n.999+69_999+70insTGTGT
ENST00000509539.3:c.261+69_261+70insTGTGT	ENSP00000425474.3:n.261+69_261+70insTGTGT
ENST00000510895.7:n.1191_1192insTGTGT
ENST00000629193.3:c.885+69_885+70insTGTGT	ENSP00000486535.2:n.885+69_885+70insTGTGT
ENST00000681968.1:c.492+69_492+70insTGTGT	ENSP00000508143.1:n.492+69_492+70insTGTGT
ENST00000682045.1:c.855+69_855+70insTGTGT	ENSP00000507329.1:n.855+69_855+70insTGTGT
ENST00000682214.1:c.606+69_606+70insTGTGT	ENSP00000507336.1:n.606+69_606+70insTGTGT
ENST00000682499.1:n.1820+69_1820+70insTGTGT
ENST00000682541.1:c.999+69_999+70insTGTGT	ENSP00000507673.1:n.999+69_999+70insTGTGT
ENST00000682687.1:c.999+69_999+70insTGTGT	ENSP00000507945.1:n.999+69_999+70insTGTGT
ENST00000682727.1:c.999+69_999+70insTGTGT	ENSP00000507393.1:n.999+69_999+70insTGTGT
ENST00000682876.1:c.1128+69_1128+70insTGTGT	ENSP00000508389.1:n.1128+69_1128+70insTGTGT
ENST00000683098.1:c.803+3130_803+3131insTGTGT	ENSP00000507670.1:n.803+3130_803+3131insTGTGT
ENST00000683258.1:c.*720+69_*720+70insTGTGT	ENSP00000507448.1:n.*720+69_*720+70insTGTGT
ENST00000683339.1:c.783+69_783+70insTGTGT	ENSP00000507758.1:n.783+69_783+70insTGTGT
ENST00000683403.1:c.909+69_909+70insTGTGT	ENSP00000507896.1:n.909+69_909+70insTGTGT
ENST00000683429.1:c.606+69_606+70insTGTGT	ENSP00000507697.1:n.606+69_606+70insTGTGT
ENST00000683665.1:c.999+69_999+70insTGTGT	ENSP00000507068.1:n.999+69_999+70insTGTGT
ENST00000683789.1:c.885+69_885+70insTGTGT	ENSP00000507012.1:n.885+69_885+70insTGTGT
ENST00000683847.1:n.843+69_843+70insTGTGT
ENST00000683882.1:c.999+69_999+70insTGTGT	ENSP00000506735.1:n.999+69_999+70insTGTGT
ENST00000684024.1:c.*670+69_*670+70insTGTGT	ENSP00000507175.1:n.*670+69_*670+70insTGTGT
ENST00000684254.1:c.*725+69_*725+70insTGTGT	ENSP00000508001.1:n.*725+69_*725+70insTGTGT
ENST00000684310.1:c.165+273_165+274insTGTGT	ENSP00000507550.1:n.165+273_165+274insTGTGT
ENST00000684530.1:c.261+69_261+70insTGTGT	ENSP00000507439.1:n.261+69_261+70insTGTGT
ENST00000684652.1:n.2070_2071insTGTGT
ENST00000340941.11:c.999+69_999+70insTGTGT MANE Select	ENSP00000343657.6:n.999+69_999+70insTGTGT
ENST00000340941.10:c.999+69_999+70insTGTGT	ENSP00000343657.6:n.999+69_999+70insTGTGT
ENST00000505435.3:n.350+69_350+70insTGTGT
ENST00000509358.6:c.999+69_999+70insTGTGT	ENSP00000420994.2:n.999+69_999+70insTGTGT
ENST00000509539.2:c.324+69_324+70insTGTGT	ENSP00000425474.2:n.324+69_324+70insTGTGT
ENST00000510895.6:n.682_683insTGTGT
ENST00000512218.6:c.885+69_885+70insTGTGT	ENSP00000423202.2:n.885+69_885+70insTGTGT
ENST00000629193.2:c.885+69_885+70insTGTGT	ENSP00000486535.1:n.885+69_885+70insTGTGT
NM_022132.4:c.999+69_999+70insTGTGT	NP_071415.1:n.999+69_999+70insTGTGT
XM_005248567.1:c.885+69_885+70insTGTGT	XP_005248624.1:n.885+69_885+70insTGTGT
XM_011543528.1:c.999+69_999+70insTGTGT	XP_011541830.1:n.999+69_999+70insTGTGT
XM_011543529.1:c.999+69_999+70insTGTGT	XP_011541831.1:n.999+69_999+70insTGTGT
NM_001363147.1:c.885+69_885+70insTGTGT	NP_001350076.1:n.885+69_885+70insTGTGT
XM_011543529.2:c.999+69_999+70insTGTGT	XP_011541831.1:n.999+69_999+70insTGTGT
XM_017009688.1:c.999+69_999+70insTGTGT	XP_016865177.1:n.999+69_999+70insTGTGT
XR_001742172.1:n.1039+69_1039+70insTGTGT
NM_022132.5:c.999+69_999+70insTGTGT MANE Select	NP_071415.1:n.999+69_999+70insTGTGT