Canonical Allele Identifier: CA2499217890

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 1074648
• ClinVar RCV Id: RCV001388010
• dbSNP Id: rs2112438432
• gnomAD v4: 5-71635213-TGCTAACCTTAAGAGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635217_71635232del , CM000667.2:g.71635217_71635232del	GRCh38
NC_000005.9:g.70931044_70931059del , CM000667.1:g.70931044_70931059del	GRCh37
NC_000005.8:g.70966800_70966815del	NCBI36
NG_008882.1:g.52930_52945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.926_941del
ENST00000505787.8:n.2810_2825del
ENST00000509358.7:c.970_985del	ENSP00000420994.3:p.Asn324LeufsTer9
ENST00000509539.3:c.232_247del	ENSP00000425474.3:p.Asn78LeufsTer27
ENST00000510895.7:n.1093_1108del
ENST00000629193.3:c.856_871del	ENSP00000486535.2:p.Asn286LeufsTer27
ENST00000681968.1:c.463_478del	ENSP00000508143.1:p.Asn155LeufsTer27
ENST00000682045.1:c.826_841del	ENSP00000507329.1:p.Asn276LeufsTer27
ENST00000682214.1:c.577_592del	ENSP00000507336.1:p.Asn193LeufsTer27
ENST00000682499.1:n.1791_1806del
ENST00000682541.1:c.970_985del	ENSP00000507673.1:p.Asn324LeufsTer26
ENST00000682687.1:c.970_985del	ENSP00000507945.1:p.Asn324LeufsTer27
ENST00000682727.1:c.970_985del	ENSP00000507393.1:p.Asn324LeufsTer9
ENST00000682876.1:c.1099_1114del	ENSP00000508389.1:p.Asn367LeufsTer27
ENST00000683098.1:c.803+3032_803+3047del	ENSP00000507670.1:n.803+3032_803+3047del
ENST00000683258.1:c.*691_*706del	ENSP00000507448.1:n.*691_*706del
ENST00000683339.1:c.754_769del	ENSP00000507758.1:p.Asn252LeufsTer27
ENST00000683403.1:c.880_895del	ENSP00000507896.1:p.Asn294LeufsTer27
ENST00000683429.1:c.577_592del	ENSP00000507697.1:p.Asn193LeufsTer27
ENST00000683665.1:c.970_985del	ENSP00000507068.1:p.Asn324LeufsTer27
ENST00000683789.1:c.856_871del	ENSP00000507012.1:p.Asn286LeufsTer27
ENST00000683847.1:n.814_829del
ENST00000683882.1:c.970_985del	ENSP00000506735.1:p.Asn324LeufsTer27
ENST00000684024.1:c.*641_*656del	ENSP00000507175.1:n.*641_*656del
ENST00000684254.1:c.*696_*711del	ENSP00000508001.1:n.*696_*711del
ENST00000684310.1:c.165+175_165+190del	ENSP00000507550.1:n.165+175_165+190del
ENST00000684530.1:c.232_247del	ENSP00000507439.1:p.Asn78LeufsTer27
ENST00000684652.1:n.1972_1987del
ENST00000340941.11:c.970_985del MANE Select	ENSP00000343657.6:p.Asn324LeufsTer27
ENST00000340941.10:c.970_985del	ENSP00000343657.6:p.Asn324LeufsTer27
ENST00000505435.3:n.321_336del
ENST00000509358.6:c.970_985del	ENSP00000420994.2:p.Asn324LeufsTer27
ENST00000509539.2:c.295_310del	ENSP00000425474.2:p.Asn99LeufsTer9
ENST00000510895.6:n.584_599del
ENST00000512218.6:c.856_871del	ENSP00000423202.2:p.Asn286LeufsTer27
ENST00000629193.2:c.856_871del	ENSP00000486535.1:p.Asn286LeufsTer27
NM_022132.4:c.970_985del	NP_071415.1:p.Asn324LeufsTer27
XM_005248567.1:c.856_871del	XP_005248624.1:p.Asn286LeufsTer27
XM_011543528.1:c.970_985del	XP_011541830.1:p.Asn324LeufsTer27
XM_011543529.1:c.970_985del	XP_011541831.1:p.Asn324LeufsTer9
NM_001363147.1:c.856_871del	NP_001350076.1:p.Asn286LeufsTer27
XM_011543529.2:c.970_985del	XP_011541831.1:p.Asn324LeufsTer9
XM_017009688.1:c.970_985del	XP_016865177.1:p.Asn324LeufsTer9
XR_001742172.1:n.1010_1025del
NM_022132.5:c.970_985del MANE Select	NP_071415.1:p.Asn324LeufsTer27