Canonical Allele Identifier: CA2499217886

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 1072513
• ClinVar RCV Id: RCV001385246
• dbSNP Id: rs2112437401

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634962del , CM000667.2:g.71634962del	GRCh38
NC_000005.9:g.70930789del , CM000667.1:g.70930789del	GRCh37
NC_000005.8:g.70966545del	NCBI36
NG_008882.1:g.52675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.779del
ENST00000505787.8:n.2663del
ENST00000509358.7:c.823del	ENSP00000420994.3:p.His275ThrfsTer12
ENST00000509539.3:c.85del	ENSP00000425474.3:p.His29ThrfsTer12
ENST00000510895.7:n.946del
ENST00000629193.3:c.709del	ENSP00000486535.2:p.His237ThrfsTer12
ENST00000681968.1:c.316del	ENSP00000508143.1:p.His106ThrfsTer12
ENST00000682045.1:c.679del	ENSP00000507329.1:p.His227ThrfsTer12
ENST00000682214.1:c.430del	ENSP00000507336.1:p.His144ThrfsTer12
ENST00000682499.1:n.1644del
ENST00000682541.1:c.823del	ENSP00000507673.1:p.His275ThrfsTer12
ENST00000682687.1:c.823del	ENSP00000507945.1:p.His275ThrfsTer12
ENST00000682727.1:c.823del	ENSP00000507393.1:p.His275ThrfsTer12
ENST00000682876.1:c.952del	ENSP00000508389.1:p.His318ThrfsTer12
ENST00000683098.1:c.803+2777del	ENSP00000507670.1:n.803+2777del
ENST00000683258.1:c.*544del	ENSP00000507448.1:n.*544del
ENST00000683339.1:c.607del	ENSP00000507758.1:p.His203ThrfsTer12
ENST00000683403.1:c.813+10del	ENSP00000507896.1:n.813+10del
ENST00000683429.1:c.430del	ENSP00000507697.1:p.His144ThrfsTer12
ENST00000683665.1:c.823del	ENSP00000507068.1:p.His275ThrfsTer12
ENST00000683789.1:c.709del	ENSP00000507012.1:p.His237ThrfsTer12
ENST00000683847.1:n.667del
ENST00000683882.1:c.823del	ENSP00000506735.1:p.His275ThrfsTer12
ENST00000684024.1:c.*494del	ENSP00000507175.1:n.*494del
ENST00000684254.1:c.*549del	ENSP00000508001.1:n.*549del
ENST00000684310.1:c.85del	ENSP00000507550.1:p.His29ThrfsTer12
ENST00000684530.1:c.85del	ENSP00000507439.1:p.His29ThrfsTer12
ENST00000684652.1:n.1825del
ENST00000340941.11:c.823del MANE Select	ENSP00000343657.6:p.His275ThrfsTer12
ENST00000340941.10:c.823del	ENSP00000343657.6:p.His275ThrfsTer12
ENST00000505435.3:n.174del
ENST00000505787.7:n.637del
ENST00000509358.6:c.823del	ENSP00000420994.2:p.His275ThrfsTer12
ENST00000509539.2:c.148del	ENSP00000425474.2:p.His50ThrfsTer12
ENST00000510895.6:n.437del
ENST00000512218.6:c.709del	ENSP00000423202.2:p.His237ThrfsTer12
ENST00000629193.2:c.709del	ENSP00000486535.1:p.His237ThrfsTer12
NM_022132.4:c.823del	NP_071415.1:p.His275ThrfsTer12
XM_005248567.1:c.709del	XP_005248624.1:p.His237ThrfsTer12
XM_011543528.1:c.823del	XP_011541830.1:p.His275ThrfsTer12
XM_011543529.1:c.823del	XP_011541831.1:p.His275ThrfsTer12
NM_001363147.1:c.709del	NP_001350076.1:p.His237ThrfsTer12
XM_011543529.2:c.823del	XP_011541831.1:p.His275ThrfsTer12
XM_017009688.1:c.823del	XP_016865177.1:p.His275ThrfsTer12
XR_001742172.1:n.863del
NM_022132.5:c.823del MANE Select	NP_071415.1:p.His275ThrfsTer12