Canonical Allele Identifier: CA2674165846

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71635244-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635245del , CM000667.2:g.71635245del	GRCh38
NC_000005.9:g.70931072del , CM000667.1:g.70931072del	GRCh37
NC_000005.8:g.70966828del	NCBI36
NG_008882.1:g.52958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.954del
ENST00000505787.8:n.2838del
ENST00000509358.7:c.998del	ENSP00000420994.3:p.Glu333GlyfsTer5
ENST00000509539.3:c.260del	ENSP00000425474.3:p.Glu87GlyfsTer23
ENST00000510895.7:n.1121del
ENST00000629193.3:c.884del	ENSP00000486535.2:p.Glu295GlyfsTer23
ENST00000681968.1:c.491del	ENSP00000508143.1:p.Glu164GlyfsTer23
ENST00000682045.1:c.854del	ENSP00000507329.1:p.Glu285GlyfsTer23
ENST00000682214.1:c.605del	ENSP00000507336.1:p.Glu202GlyfsTer23
ENST00000682499.1:n.1819del
ENST00000682541.1:c.998del	ENSP00000507673.1:p.Glu333GlyfsTer22
ENST00000682687.1:c.998del	ENSP00000507945.1:p.Glu333GlyfsTer23
ENST00000682727.1:c.998del	ENSP00000507393.1:p.Glu333GlyfsTer5
ENST00000682876.1:c.1127del	ENSP00000508389.1:p.Glu376GlyfsTer23
ENST00000683098.1:c.803+3060del	ENSP00000507670.1:n.803+3060del
ENST00000683258.1:c.*719del	ENSP00000507448.1:n.*719del
ENST00000683339.1:c.782del	ENSP00000507758.1:p.Glu261GlyfsTer23
ENST00000683403.1:c.908del	ENSP00000507896.1:p.Glu303GlyfsTer23
ENST00000683429.1:c.605del	ENSP00000507697.1:p.Glu202GlyfsTer23
ENST00000683665.1:c.998del	ENSP00000507068.1:p.Glu333GlyfsTer23
ENST00000683789.1:c.884del	ENSP00000507012.1:p.Glu295GlyfsTer23
ENST00000683847.1:n.842del
ENST00000683882.1:c.998del	ENSP00000506735.1:p.Glu333GlyfsTer23
ENST00000684024.1:c.*669del	ENSP00000507175.1:n.*669del
ENST00000684254.1:c.*724del	ENSP00000508001.1:n.*724del
ENST00000684310.1:c.165+203del	ENSP00000507550.1:n.165+203del
ENST00000684530.1:c.260del	ENSP00000507439.1:p.Glu87GlyfsTer23
ENST00000684652.1:n.2000del
ENST00000340941.11:c.998del MANE Select	ENSP00000343657.6:p.Glu333GlyfsTer23
ENST00000340941.10:c.998del	ENSP00000343657.6:p.Glu333GlyfsTer23
ENST00000505435.3:n.349del
ENST00000509358.6:c.998del	ENSP00000420994.2:p.Glu333GlyfsTer23
ENST00000509539.2:c.323del	ENSP00000425474.2:p.Glu108GlyfsTer5
ENST00000510895.6:n.612del
ENST00000512218.6:c.884del	ENSP00000423202.2:p.Glu295GlyfsTer23
ENST00000629193.2:c.884del	ENSP00000486535.1:p.Glu295GlyfsTer23
NM_022132.4:c.998del	NP_071415.1:p.Glu333GlyfsTer23
XM_005248567.1:c.884del	XP_005248624.1:p.Glu295GlyfsTer23
XM_011543528.1:c.998del	XP_011541830.1:p.Glu333GlyfsTer23
XM_011543529.1:c.998del	XP_011541831.1:p.Glu333GlyfsTer5
NM_001363147.1:c.884del	NP_001350076.1:p.Glu295GlyfsTer23
XM_011543529.2:c.998del	XP_011541831.1:p.Glu333GlyfsTer5
XM_017009688.1:c.998del	XP_016865177.1:p.Glu333GlyfsTer5
XR_001742172.1:n.1038del
NM_022132.5:c.998del MANE Select	NP_071415.1:p.Glu333GlyfsTer23