Canonical Allele Identifier: CA492691505
Gene: TM2D3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.102186980A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646777A>C , CM000677.2:g.101646777A>C GRCh38
NC_000015.9:g.102186980A>C , CM000677.1:g.102186980A>C GRCh37
NC_000015.8:g.100004503A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.450T>G MANE Select ENSP00000330433.3:p.Pro150=
ENST00000333202.7:c.450T>G ENSP00000330433.3:p.Pro150=
ENST00000347970.7:c.372T>G ENSP00000327584.3:p.Pro124=
ENST00000428002.6:c.372T>G ENSP00000402179.2:p.Pro124=
ENST00000558129.5:c.281T>G
ENST00000558677.5:c.751T>G
ENST00000559024.5:n.471T>G
ENST00000559107.5:c.450T>G ENSP00000454131.1:p.Pro150=
ENST00000560013.5:c.*818T>G ENSP00000453503.1:n.*818T>G
ENST00000560910.5:n.392T>G
ENST00000561373.1:c.255T>G ENSP00000452823.1:p.Pro85=
NM_001307960.1:c.372T>G NP_001294889.1:p.Pro124=
NM_001308026.1:c.450T>G NP_001294955.1:p.Pro150=
NM_025141.3:c.372T>G NP_079417.2:p.Pro124=
NM_078474.2:c.450T>G NP_510883.2:p.Pro150=
NM_078474.3:c.450T>G MANE Select NP_510883.2:p.Pro150=
NM_001307960.2:c.372T>G NP_001294889.1:p.Pro124=
NM_001308026.2:c.450T>G NP_001294955.1:p.Pro150=
NM_025141.4:c.372T>G NP_079417.2:p.Pro124=