Canonical Allele Identifier: CA560314527

Gene: MCCC2

Linked Data

• dbSNP Id: rs1202590648
• gnomAD v2: 5-70898421-GA-G
• gnomAD v4: 5-71602594-GA-G
• MyVariant Identifiers: chr5:g.70898422del (hg19) ; chr5:g.71602595del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602597del , CM000667.2:g.71602597del	GRCh38
NC_000005.9:g.70898424del , CM000667.1:g.70898424del	GRCh37
NC_000005.8:g.70934180del	NCBI36
NG_008882.1:g.20310del

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.545del
ENST00000505787.8:n.2315del
ENST00000509358.7:c.475del	ENSP00000420994.3:p.Ile159LeufsTer12
ENST00000510895.7:n.598del
ENST00000629193.3:c.475del	ENSP00000486535.2:p.Ile159LeufsTer12
ENST00000681968.1:c.82del	ENSP00000508143.1:p.Ile28LeufsTer12
ENST00000682045.1:c.331del	ENSP00000507329.1:p.Ile111LeufsTer12
ENST00000682214.1:c.82del	ENSP00000507336.1:p.Ile28LeufsTer12
ENST00000682499.1:n.1296del
ENST00000682541.1:c.475del	ENSP00000507673.1:p.Ile159LeufsTer12
ENST00000682687.1:c.475del	ENSP00000507945.1:p.Ile159LeufsTer12
ENST00000682727.1:c.475del	ENSP00000507393.1:p.Ile159LeufsTer12
ENST00000682876.1:c.475del	ENSP00000508389.1:p.Ile159LeufsTer12
ENST00000683098.1:c.475del	ENSP00000507670.1:p.Ile159LeufsTer12
ENST00000683258.1:c.*196del	ENSP00000507448.1:n.*196del
ENST00000683339.1:c.373del	ENSP00000507758.1:p.Ile125LeufsTer12
ENST00000683403.1:c.475del	ENSP00000507896.1:p.Ile159LeufsTer12
ENST00000683429.1:c.82del	ENSP00000507697.1:p.Ile28LeufsTer12
ENST00000683665.1:c.475del	ENSP00000507068.1:p.Ile159LeufsTer12
ENST00000683789.1:c.475del	ENSP00000507012.1:p.Ile159LeufsTer12
ENST00000683882.1:c.475del	ENSP00000506735.1:p.Ile159LeufsTer12
ENST00000684024.1:c.*146del	ENSP00000507175.1:n.*146del
ENST00000684254.1:c.*201del	ENSP00000508001.1:n.*201del
ENST00000340941.11:c.475del MANE Select	ENSP00000343657.6:p.Ile159LeufsTer12
ENST00000340941.10:c.475del	ENSP00000343657.6:p.Ile159LeufsTer12
ENST00000505787.7:n.289del
ENST00000507169.5:n.401del
ENST00000509358.6:c.475del	ENSP00000420994.2:p.Ile159LeufsTer12
ENST00000510895.6:n.89del
ENST00000512218.6:c.475del	ENSP00000423202.2:p.Ile159LeufsTer12
ENST00000629193.2:c.475del	ENSP00000486535.1:p.Ile159LeufsTer12
NM_022132.4:c.475del	NP_071415.1:p.Ile159LeufsTer12
XM_005248567.1:c.475del	XP_005248624.1:p.Ile159LeufsTer12
XM_011543528.1:c.475del	XP_011541830.1:p.Ile159LeufsTer12
XM_011543529.1:c.475del	XP_011541831.1:p.Ile159LeufsTer12
NM_001363147.1:c.475del	NP_001350076.1:p.Ile159LeufsTer12
XM_011543529.2:c.475del	XP_011541831.1:p.Ile159LeufsTer12
XM_017009688.1:c.475del	XP_016865177.1:p.Ile159LeufsTer12
XR_001742172.1:n.515del
NM_022132.5:c.475del MANE Select	NP_071415.1:p.Ile159LeufsTer12