Canonical Allele Identifier: CA2674165821

Gene: MCCC2

Linked Data

• dbSNP Id: rs2112437581
• gnomAD v4: 5-71634994-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634996dup , CM000667.2:g.71634996dup	GRCh38
NC_000005.9:g.70930823dup , CM000667.1:g.70930823dup	GRCh37
NC_000005.8:g.70966579dup	NCBI36
NG_008882.1:g.52709dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.813dup
ENST00000505787.8:n.2697dup
ENST00000509358.7:c.857dup	ENSP00000420994.3:p.Leu286PhefsTer3
ENST00000509539.3:c.119dup	ENSP00000425474.3:p.Leu40PhefsTer3
ENST00000510895.7:n.980dup
ENST00000629193.3:c.743dup	ENSP00000486535.2:p.Leu248PhefsTer3
ENST00000681968.1:c.350dup	ENSP00000508143.1:p.Leu117PhefsTer3
ENST00000682045.1:c.713dup	ENSP00000507329.1:p.Leu238PhefsTer3
ENST00000682214.1:c.464dup	ENSP00000507336.1:p.Leu155PhefsTer3
ENST00000682499.1:n.1678dup
ENST00000682541.1:c.857dup	ENSP00000507673.1:p.Leu286PhefsTer3
ENST00000682687.1:c.857dup	ENSP00000507945.1:p.Leu286PhefsTer3
ENST00000682727.1:c.857dup	ENSP00000507393.1:p.Leu286PhefsTer3
ENST00000682876.1:c.986dup	ENSP00000508389.1:p.Leu329PhefsTer3
ENST00000683098.1:c.803+2811dup	ENSP00000507670.1:n.803+2811dup
ENST00000683258.1:c.*578dup	ENSP00000507448.1:n.*578dup
ENST00000683339.1:c.641dup	ENSP00000507758.1:p.Leu214PhefsTer3
ENST00000683403.1:c.813+44dup	ENSP00000507896.1:n.813+44dup
ENST00000683429.1:c.464dup	ENSP00000507697.1:p.Leu155PhefsTer3
ENST00000683665.1:c.857dup	ENSP00000507068.1:p.Leu286PhefsTer3
ENST00000683789.1:c.743dup	ENSP00000507012.1:p.Leu248PhefsTer3
ENST00000683847.1:n.701dup
ENST00000683882.1:c.857dup	ENSP00000506735.1:p.Leu286PhefsTer3
ENST00000684024.1:c.*528dup	ENSP00000507175.1:n.*528dup
ENST00000684254.1:c.*583dup	ENSP00000508001.1:n.*583dup
ENST00000684310.1:c.119dup	ENSP00000507550.1:p.Leu40PhefsTer3
ENST00000684530.1:c.119dup	ENSP00000507439.1:p.Leu40PhefsTer3
ENST00000684652.1:n.1859dup
ENST00000340941.11:c.857dup MANE Select	ENSP00000343657.6:p.Leu286PhefsTer3
ENST00000340941.10:c.857dup	ENSP00000343657.6:p.Leu286PhefsTer3
ENST00000505435.3:n.208dup
ENST00000505787.7:n.671dup
ENST00000509358.6:c.857dup	ENSP00000420994.2:p.Leu286PhefsTer3
ENST00000509539.2:c.182dup	ENSP00000425474.2:p.Leu61PhefsTer3
ENST00000510895.6:n.471dup
ENST00000512218.6:c.743dup	ENSP00000423202.2:p.Leu248PhefsTer3
ENST00000629193.2:c.743dup	ENSP00000486535.1:p.Leu248PhefsTer3
NM_022132.4:c.857dup	NP_071415.1:p.Leu286PhefsTer3
XM_005248567.1:c.743dup	XP_005248624.1:p.Leu248PhefsTer3
XM_011543528.1:c.857dup	XP_011541830.1:p.Leu286PhefsTer3
XM_011543529.1:c.857dup	XP_011541831.1:p.Leu286PhefsTer3
NM_001363147.1:c.743dup	NP_001350076.1:p.Leu248PhefsTer3
XM_011543529.2:c.857dup	XP_011541831.1:p.Leu286PhefsTer3
XM_017009688.1:c.857dup	XP_016865177.1:p.Leu286PhefsTer3
XR_001742172.1:n.897dup
NM_022132.5:c.857dup MANE Select	NP_071415.1:p.Leu286PhefsTer3