Canonical Allele Identifier: CA915943389

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 641165
• ClinVar RCV Id: RCV000794342
• dbSNP Id: rs1580319814
• gnomAD v4: 5-71635028-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635030_71635031del , CM000667.2:g.71635030_71635031del	GRCh38
NC_000005.9:g.70930857_70930858del , CM000667.1:g.70930857_70930858del	GRCh37
NC_000005.8:g.70966613_70966614del	NCBI36
NG_008882.1:g.52743_52744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.847_848del
ENST00000505787.8:n.2731_2732del
ENST00000509358.7:c.891_892del	ENSP00000420994.3:p.Lys298GlufsTer7
ENST00000509539.3:c.153_154del	ENSP00000425474.3:p.Lys52GlufsTer7
ENST00000510895.7:n.1014_1015del
ENST00000629193.3:c.777_778del	ENSP00000486535.2:p.Lys260GlufsTer7
ENST00000681968.1:c.384_385del	ENSP00000508143.1:p.Lys129GlufsTer7
ENST00000682045.1:c.747_748del	ENSP00000507329.1:p.Lys250GlufsTer7
ENST00000682214.1:c.498_499del	ENSP00000507336.1:p.Lys167GlufsTer7
ENST00000682499.1:n.1712_1713del
ENST00000682541.1:c.891_892del	ENSP00000507673.1:p.Lys298GlufsTer7
ENST00000682687.1:c.891_892del	ENSP00000507945.1:p.Lys298GlufsTer7
ENST00000682727.1:c.891_892del	ENSP00000507393.1:p.Lys298GlufsTer7
ENST00000682876.1:c.1020_1021del	ENSP00000508389.1:p.Lys341GlufsTer7
ENST00000683098.1:c.803+2845_803+2846del	ENSP00000507670.1:n.803+2845_803+2846del
ENST00000683258.1:c.*612_*613del	ENSP00000507448.1:n.*612_*613del
ENST00000683339.1:c.675_676del	ENSP00000507758.1:p.Lys226GlufsTer7
ENST00000683403.1:c.813+78_813+79del	ENSP00000507896.1:n.813+78_813+79del
ENST00000683429.1:c.498_499del	ENSP00000507697.1:p.Lys167GlufsTer7
ENST00000683665.1:c.891_892del	ENSP00000507068.1:p.Lys298GlufsTer7
ENST00000683789.1:c.777_778del	ENSP00000507012.1:p.Lys260GlufsTer7
ENST00000683847.1:n.735_736del
ENST00000683882.1:c.891_892del	ENSP00000506735.1:p.Lys298GlufsTer7
ENST00000684024.1:c.*562_*563del	ENSP00000507175.1:n.*562_*563del
ENST00000684254.1:c.*617_*618del	ENSP00000508001.1:n.*617_*618del
ENST00000684310.1:c.153_154del	ENSP00000507550.1:p.Lys52GlufsTer7
ENST00000684530.1:c.153_154del	ENSP00000507439.1:p.Lys52GlufsTer7
ENST00000684652.1:n.1893_1894del
ENST00000340941.11:c.891_892del MANE Select	ENSP00000343657.6:p.Lys298GlufsTer7
ENST00000340941.10:c.891_892del	ENSP00000343657.6:p.Lys298GlufsTer7
ENST00000505435.3:n.242_243del
ENST00000505787.7:n.705_706del
ENST00000509358.6:c.891_892del	ENSP00000420994.2:p.Lys298GlufsTer7
ENST00000509539.2:c.216_217del	ENSP00000425474.2:p.Lys73GlufsTer7
ENST00000510895.6:n.505_506del
ENST00000512218.6:c.777_778del	ENSP00000423202.2:p.Lys260GlufsTer7
ENST00000629193.2:c.777_778del	ENSP00000486535.1:p.Lys260GlufsTer7
NM_022132.4:c.891_892del	NP_071415.1:p.Lys298GlufsTer7
XM_005248567.1:c.777_778del	XP_005248624.1:p.Lys260GlufsTer7
XM_011543528.1:c.891_892del	XP_011541830.1:p.Lys298GlufsTer7
XM_011543529.1:c.891_892del	XP_011541831.1:p.Lys298GlufsTer7
NM_001363147.1:c.777_778del	NP_001350076.1:p.Lys260GlufsTer7
XM_011543529.2:c.891_892del	XP_011541831.1:p.Lys298GlufsTer7
XM_017009688.1:c.891_892del	XP_016865177.1:p.Lys298GlufsTer7
XR_001742172.1:n.931_932del
NM_022132.5:c.891_892del MANE Select	NP_071415.1:p.Lys298GlufsTer7