Canonical Allele Identifier: CA2630689475

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646428-C-CAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646429_101646430insGAA , CM000677.2:g.101646429_101646430insGAA	GRCh38
NC_000015.9:g.102186632_102186633insGAA , CM000677.1:g.102186632_102186633insGAA	GRCh37
NC_000015.8:g.100004155_100004156insGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+296_502+297insTCT MANE Select	ENSP00000330433.3:n.502+296_502+297insTCT
ENST00000333202.7:c.502+296_502+297insTCT	ENSP00000330433.3:n.502+296_502+297insTCT
ENST00000347970.7:c.424+296_424+297insTCT	ENSP00000327584.3:n.424+296_424+297insTCT
ENST00000428002.6:c.424+296_424+297insTCT	ENSP00000402179.2:n.424+296_424+297insTCT
ENST00000558129.5:c.333+296_333+297insTCT
ENST00000558677.5:c.803+296_803+297insTCT
ENST00000559024.5:n.819_820insTCT
ENST00000559107.5:c.502+296_502+297insTCT	ENSP00000454131.1:n.502+296_502+297insTCT
ENST00000560013.5:c.*870+296_*870+297insTCT	ENSP00000453503.1:n.*870+296_*870+297insTCT
ENST00000561373.1:c.307+296_307+297insTCT	ENSP00000452823.1:n.307+296_307+297insTCT
NM_001307960.1:c.424+296_424+297insTCT	NP_001294889.1:n.424+296_424+297insTCT
NM_001308026.1:c.502+296_502+297insTCT	NP_001294955.1:n.502+296_502+297insTCT
NM_025141.3:c.424+296_424+297insTCT	NP_079417.2:n.424+296_424+297insTCT
NM_078474.2:c.502+296_502+297insTCT	NP_510883.2:n.502+296_502+297insTCT
NM_078474.3:c.502+296_502+297insTCT MANE Select	NP_510883.2:n.502+296_502+297insTCT
NM_001307960.2:c.424+296_424+297insTCT	NP_001294889.1:n.424+296_424+297insTCT
NM_001308026.2:c.502+296_502+297insTCT	NP_001294955.1:n.502+296_502+297insTCT
NM_025141.4:c.424+296_424+297insTCT	NP_079417.2:n.424+296_424+297insTCT