Canonical Allele Identifier: CA393979268
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646806A>G , CM000677.2:g.101646806A>G GRCh38
NC_000015.9:g.102187009A>G , CM000677.1:g.102187009A>G GRCh37
NC_000015.8:g.100004532A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.421T>C MANE Select ENSP00000330433.3:p.Ser141Pro
ENST00000333202.7:c.421T>C ENSP00000330433.3:p.Ser141Pro
ENST00000347970.7:c.343T>C ENSP00000327584.3:p.Ser115Pro
ENST00000428002.6:c.343T>C ENSP00000402179.2:p.Ser115Pro
ENST00000558129.5:c.252T>C
ENST00000558677.5:c.722T>C
ENST00000559024.5:n.442T>C
ENST00000559107.5:c.421T>C ENSP00000454131.1:p.Ser141Pro
ENST00000560013.5:c.*789T>C ENSP00000453503.1:n.*789T>C
ENST00000560910.5:n.363T>C
ENST00000561373.1:c.226T>C ENSP00000452823.1:p.Ser76Pro
NM_001307960.1:c.343T>C NP_001294889.1:p.Ser115Pro
NM_001308026.1:c.421T>C NP_001294955.1:p.Ser141Pro
NM_025141.3:c.343T>C NP_079417.2:p.Ser115Pro
NM_078474.2:c.421T>C NP_510883.2:p.Ser141Pro
NM_078474.3:c.421T>C MANE Select NP_510883.2:p.Ser141Pro
NM_001307960.2:c.343T>C NP_001294889.1:p.Ser115Pro
NM_001308026.2:c.421T>C NP_001294955.1:p.Ser141Pro
NM_025141.4:c.343T>C NP_079417.2:p.Ser115Pro