Canonical Allele Identifier: CA2630685511

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646401-G-GAAAGCACTCAGGCACTCAGGCACTCAGGAACTCAGGCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646401_101646402insAAAGCACTCAGGCACTCAGGCACTCAGGAACTCAGGCACT , CM000677.2:g.101646401_101646402insAAAGCACTCAGGCACTCAGGCACTCAGGAACTCAGGCACT	GRCh38
NC_000015.9:g.102186604_102186605insAAAGCACTCAGGCACTCAGGCACTCAGGAACTCAGGCACT , CM000677.1:g.102186604_102186605insAAAGCACTCAGGCACTCAGGCACTCAGGAACTCAGGCACT	GRCh37
NC_000015.8:g.100004127_100004128insAAAGCACTCAGGCACTCAGGCACTCAGGAACTCAGGCACT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT MANE Select	ENSP00000330433.3:n.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCT...
ENST00000333202.7:c.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	ENSP00000330433.3:n.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCT...
ENST00000347970.7:c.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	ENSP00000327584.3:n.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCT...
ENST00000428002.6:c.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	ENSP00000402179.2:n.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCT...
ENST00000558129.5:c.333+323_333+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT
ENST00000558677.5:c.803+323_803+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT
ENST00000559024.5:n.846_847insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT
ENST00000559107.5:c.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	ENSP00000454131.1:n.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCT...
ENST00000559891.1:n.21_22insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT
ENST00000560013.5:c.*870+323_*870+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	ENSP00000453503.1:n.*870+323_*870+324insAGTGCCTGAGTTCCTGAGTGC...
ENST00000561373.1:c.307+323_307+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	ENSP00000452823.1:n.307+323_307+324insAGTGCCTGAGTTCCTGAGTGCCT...
NM_001307960.1:c.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	NP_001294889.1:n.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAG...
NM_001308026.1:c.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	NP_001294955.1:n.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAG...
NM_025141.3:c.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	NP_079417.2:n.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGC...
NM_078474.2:c.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	NP_510883.2:n.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGC...
NM_078474.3:c.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT MANE Select	NP_510883.2:n.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGC...
NM_001307960.2:c.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	NP_001294889.1:n.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAG...
NM_001308026.2:c.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	NP_001294955.1:n.502+323_502+324insAGTGCCTGAGTTCCTGAGTGCCTGAG...
NM_025141.4:c.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGAGTGCTTT	NP_079417.2:n.424+323_424+324insAGTGCCTGAGTTCCTGAGTGCCTGAGTGC...