Canonical Allele Identifier: CA7764589
Gene: TM2D3 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs139709573

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646763G>A , CM000677.2:g.101646763G>A GRCh38
NC_000015.9:g.102186966G>A , CM000677.1:g.102186966G>A GRCh37
NC_000015.8:g.100004489G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001307960.1:c.386C>T VV NP_001294889.1:p.Pro129Leu
NM_001308026.1:c.464C>T VV NP_001294955.1:p.Pro155Leu
NM_025141.3:c.386C>T VV NP_079417.2:p.Pro129Leu
NM_078474.2:c.464C>T VV NP_510883.2:p.Pro155Leu
NM_078474.3:c.464C>T VV MANE Preferred NP_510883.2:p.Pro155Leu
ENST00000333202.7:c.464C>T ENSP00000330433.3:p.Pro155Leu
ENST00000347970.7:c.386C>T ENSP00000327584.3:p.Pro129Leu
ENST00000428002.6:c.386C>T ENSP00000402179.2:p.Pro129Leu
ENST00000558129.5:n.295C>T
ENST00000558677.5:n.765C>T
ENST00000559024.5:n.485C>T
ENST00000559107.5:c.464C>T ENSP00000454131.1:p.Pro155Leu
ENST00000560013.5:c.*832C>T ENSP00000453503.1:p.=
ENST00000560910.5:n.406C>T
ENST00000561373.1:c.269C>T ENSP00000452823.1:p.Pro90Leu