Canonical Allele Identifier: CA2200628467
Gene: TM2D3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646739_101646750delinsTGGTCCCGCACC , CM000677.2:g.101646739_101646750delinsTGGTCCCGCACC GRCh38
NC_000015.9:g.102186942_102186953delinsTGGTCCCGCACC , CM000677.1:g.102186942_102186953delinsTGGTCCCGCACC GRCh37
NC_000015.8:g.100004465_100004476delinsTGGTCCCGCACC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.477_488delinsGGTGCGGGACCA MANE Select ENSP00000330433.3:p.Thr159=
ENST00000333202.7:c.477_488delinsGGTGCGGGACCA ENSP00000330433.3:p.Thr159=
ENST00000347970.7:c.399_410delinsGGTGCGGGACCA ENSP00000327584.3:p.Thr133=
ENST00000428002.6:c.399_410delinsGGTGCGGGACCA ENSP00000402179.2:p.Thr133=
ENST00000558129.5:c.308_319delinsGGTGCGGGACCA
ENST00000558677.5:c.778_789delinsGGTGCGGGACCA
ENST00000559024.5:n.498_509delinsGGTGCGGGACCA
ENST00000559107.5:c.477_488delinsGGTGCGGGACCA ENSP00000454131.1:p.Thr159=
ENST00000560013.5:c.*845_*856delinsGGTGCGGGACCA ENSP00000453503.1:n.*845_*856delinsGGTGCGGGACCA
ENST00000560910.5:n.419_430delinsGGTGCGGGACCA
ENST00000561373.1:c.282_293delinsGGTGCGGGACCA ENSP00000452823.1:p.Thr94=
NM_001307960.1:c.399_410delinsGGTGCGGGACCA NP_001294889.1:p.Thr133=
NM_001308026.1:c.477_488delinsGGTGCGGGACCA NP_001294955.1:p.Thr159=
NM_025141.3:c.399_410delinsGGTGCGGGACCA NP_079417.2:p.Thr133=
NM_078474.2:c.477_488delinsGGTGCGGGACCA NP_510883.2:p.Thr159=
NM_078474.3:c.477_488delinsGGTGCGGGACCA MANE Select NP_510883.2:p.Thr159=
NM_001307960.2:c.399_410delinsGGTGCGGGACCA NP_001294889.1:p.Thr133=
NM_001308026.2:c.477_488delinsGGTGCGGGACCA NP_001294955.1:p.Thr159=
NM_025141.4:c.399_410delinsGGTGCGGGACCA NP_079417.2:p.Thr133=