Canonical Allele Identifier: CA492691485
Gene: TM2D3 HGNC NCBI

Linked Data

dbSNP Id: rs1238417303

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646765G>A , CM000677.2:g.101646765G>A GRCh38
NC_000015.9:g.102186968G>A , CM000677.1:g.102186968G>A GRCh37
NC_000015.8:g.100004491G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000333202.8:c.462C>T MANE Select ENSP00000330433.3:p.Tyr154=
ENST00000333202.7:c.462C>T ENSP00000330433.3:p.Tyr154=
ENST00000347970.7:c.384C>T ENSP00000327584.3:p.Tyr128=
ENST00000428002.6:c.384C>T ENSP00000402179.2:p.Tyr128=
ENST00000558129.5:c.293C>T
ENST00000558677.5:c.763C>T
ENST00000559024.5:n.483C>T
ENST00000559107.5:c.462C>T ENSP00000454131.1:p.Tyr154=
ENST00000560013.5:c.*830C>T ENSP00000453503.1:n.*830C>T
ENST00000560910.5:n.404C>T
ENST00000561373.1:c.267C>T ENSP00000452823.1:p.Tyr89=
NM_001307960.1:c.384C>T NP_001294889.1:p.Tyr128=
NM_001308026.1:c.462C>T NP_001294955.1:p.Tyr154=
NM_025141.3:c.384C>T NP_079417.2:p.Tyr128=
NM_078474.2:c.462C>T NP_510883.2:p.Tyr154=
NM_078474.3:c.462C>T MANE Select NP_510883.2:p.Tyr154=
NM_001307960.2:c.384C>T NP_001294889.1:p.Tyr128=
NM_001308026.2:c.462C>T NP_001294955.1:p.Tyr154=
NM_025141.4:c.384C>T NP_079417.2:p.Tyr128=