Canonical Allele Identifier: CA2695204569
Community Standard Title: NM_022132.5(MCCC2):c.653_654delinsTT (p.Ala218Val)
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71626668_71626669delinsTT , CM000667.2:g.71626668_71626669delinsTT GRCh38
NC_000005.9:g.70922495_70922496delinsTT , CM000667.1:g.70922495_70922496delinsTT GRCh37
NC_000005.8:g.70958251_70958252delinsTT NCBI36
NG_008882.1:g.44381_44382delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_022132.5:c.653_654delinsTT MANE Select NP_071415.1:p.Ala218Val
ENST00000340941.11:c.653_654delinsTT MANE Select ENSP00000343657.6:p.Ala218Val
NM_001363147.1:c.625-5453_625-5452delinsTT NP_001350076.1:n.625-5453_625-5452delinsTT
NM_022132.4:c.653_654delinsTT NP_071415.1:p.Ala218Val
ENST00000340941.10:c.653_654delinsTT ENSP00000343657.6:p.Ala218Val
ENST00000505435.3:n.90-5453_90-5452delinsTT
ENST00000505435.4:n.695-5453_695-5452delinsTT
ENST00000505787.7:n.467_468delinsTT
ENST00000505787.8:n.2493_2494delinsTT
ENST00000509358.6:c.653_654delinsTT ENSP00000420994.2:p.Ala218Val
ENST00000509358.7:c.653_654delinsTT ENSP00000420994.3:p.Ala218Val
ENST00000509539.2:c.-23_-22delinsTT ENSP00000425474.2:n.-23_-22delinsTT
ENST00000510895.6:n.267_268delinsTT
ENST00000510895.7:n.776_777delinsTT
ENST00000512218.6:c.625-5453_625-5452delinsTT ENSP00000423202.2:n.625-5453_625-5452delinsTT
ENST00000629193.2:c.625-5453_625-5452delinsTT ENSP00000486535.1:n.625-5453_625-5452delinsTT
ENST00000629193.3:c.625-5453_625-5452delinsTT ENSP00000486535.2:n.625-5453_625-5452delinsTT
ENST00000681968.1:c.232-5453_232-5452delinsTT ENSP00000508143.1:n.232-5453_232-5452delinsTT
ENST00000682045.1:c.509_510delinsTT ENSP00000507329.1:p.Ala170Val
ENST00000682214.1:c.260_261delinsTT ENSP00000507336.1:p.Ala87Val
ENST00000682499.1:n.1474_1475delinsTT
ENST00000682541.1:c.653_654delinsTT ENSP00000507673.1:p.Ala218Val
ENST00000682687.1:c.653_654delinsTT ENSP00000507945.1:p.Ala218Val
ENST00000682727.1:c.653_654delinsTT ENSP00000507393.1:p.Ala218Val
ENST00000682876.1:c.653_654delinsTT ENSP00000508389.1:p.Ala218Val
ENST00000683098.1:c.653_654delinsTT ENSP00000507670.1:p.Ala218Val
ENST00000683258.1:c.*374_*375delinsTT ENSP00000507448.1:n.*374_*375delinsTT
ENST00000683339.1:c.523-5453_523-5452delinsTT ENSP00000507758.1:n.523-5453_523-5452delinsTT
ENST00000683403.1:c.653_654delinsTT ENSP00000507896.1:p.Ala218Val
ENST00000683429.1:c.260_261delinsTT ENSP00000507697.1:p.Ala87Val
ENST00000683665.1:c.653_654delinsTT ENSP00000507068.1:p.Ala218Val
ENST00000683789.1:c.625-5453_625-5452delinsTT ENSP00000507012.1:n.625-5453_625-5452delinsTT
ENST00000683882.1:c.653_654delinsTT ENSP00000506735.1:p.Ala218Val
ENST00000684024.1:c.*324_*325delinsTT ENSP00000507175.1:n.*324_*325delinsTT
ENST00000684254.1:c.*379_*380delinsTT ENSP00000508001.1:n.*379_*380delinsTT
XM_005248567.1:c.625-5453_625-5452delinsTT XP_005248624.1:n.625-5453_625-5452delinsTT
XM_011543528.1:c.653_654delinsTT XP_011541830.1:p.Ala218Val
XM_011543529.1:c.653_654delinsTT XP_011541831.1:p.Ala218Val
XM_011543529.2:c.653_654delinsTT XP_011541831.1:p.Ala218Val
XM_017009688.1:c.653_654delinsTT XP_016865177.1:p.Ala218Val
XR_001742172.1:n.693_694delinsTT