Canonical Allele Identifier: CA620144235

Gene: TM2D3

Linked Data

• dbSNP Id: rs1393548887
• gnomAD v2: 15-102186606-A-AGGC
• gnomAD v3: 15-101646403-A-AGGC
• gnomAD v4: 15-101646403-A-AGGC
• MyVariant Identifiers: chr15:g.102186606_102186607insGGC (hg19) ; chr15:g.101646403_101646404insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646403_101646404insGGC , CM000677.2:g.101646403_101646404insGGC	GRCh38
NC_000015.9:g.102186606_102186607insGGC , CM000677.1:g.102186606_102186607insGGC	GRCh37
NC_000015.8:g.100004129_100004130insGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+321_502+322insGCC MANE Select	ENSP00000330433.3:n.502+321_502+322insGCC
ENST00000333202.7:c.502+321_502+322insGCC	ENSP00000330433.3:n.502+321_502+322insGCC
ENST00000347970.7:c.424+321_424+322insGCC	ENSP00000327584.3:n.424+321_424+322insGCC
ENST00000428002.6:c.424+321_424+322insGCC	ENSP00000402179.2:n.424+321_424+322insGCC
ENST00000558129.5:c.333+321_333+322insGCC
ENST00000558677.5:c.803+321_803+322insGCC
ENST00000559024.5:n.844_845insGCC
ENST00000559107.5:c.502+321_502+322insGCC	ENSP00000454131.1:n.502+321_502+322insGCC
ENST00000559891.1:n.19_20insGCC
ENST00000560013.5:c.*870+321_*870+322insGCC	ENSP00000453503.1:n.*870+321_*870+322insGCC
ENST00000561373.1:c.307+321_307+322insGCC	ENSP00000452823.1:n.307+321_307+322insGCC
NM_001307960.1:c.424+321_424+322insGCC	NP_001294889.1:n.424+321_424+322insGCC
NM_001308026.1:c.502+321_502+322insGCC	NP_001294955.1:n.502+321_502+322insGCC
NM_025141.3:c.424+321_424+322insGCC	NP_079417.2:n.424+321_424+322insGCC
NM_078474.2:c.502+321_502+322insGCC	NP_510883.2:n.502+321_502+322insGCC
NM_078474.3:c.502+321_502+322insGCC MANE Select	NP_510883.2:n.502+321_502+322insGCC
NM_001307960.2:c.424+321_424+322insGCC	NP_001294889.1:n.424+321_424+322insGCC
NM_001308026.2:c.502+321_502+322insGCC	NP_001294955.1:n.502+321_502+322insGCC
NM_025141.4:c.424+321_424+322insGCC	NP_079417.2:n.424+321_424+322insGCC