Canonical Allele Identifier: CA10184846
Gene: TCN2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30615623G>A , CM000684.2:g.30615623G>A GRCh38
NC_000022.10:g.31011610G>A , CM000684.1:g.31011610G>A GRCh37
NC_000022.9:g.29341610G>A NCBI36
NG_007263.1:g.13450G>A , LRG_116:g.13450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000471659.2:n.2253G>A
ENST00000698263.1:c.776G>A ENSP00000513635.1:p.Arg259His
ENST00000698264.1:n.2253G>A
ENST00000698265.1:c.776G>A ENSP00000513636.1:p.Arg259His
ENST00000698266.1:c.776G>A ENSP00000513637.1:p.Arg259His
ENST00000698267.1:c.776G>A ENSP00000513638.1:p.Arg259His
ENST00000698268.1:c.776G>A ENSP00000513639.1:p.Arg259His
ENST00000698269.1:c.*342G>A ENSP00000513640.1:n.*342G>A
ENST00000698270.1:c.623G>A ENSP00000513641.1:p.Arg208His
ENST00000698271.1:c.806G>A ENSP00000513642.1:p.Arg269His
ENST00000698272.1:c.767G>A ENSP00000513643.1:p.Arg256His
ENST00000698273.1:c.767G>A ENSP00000513644.1:p.Arg256His
ENST00000215838.8:c.776G>A MANE Select ENSP00000215838.3:p.Arg259His
ENST00000215838.7:c.776G>A ENSP00000215838.3:p.Arg259His
ENST00000405742.7:c.764G>A ENSP00000385914.3:p.Arg255His
ENST00000407817.3:c.695G>A ENSP00000384914.3:p.Arg232His
ENST00000450638.5:c.701G>A ENSP00000394184.2:p.Arg234His
NM_000355.3:c.776G>A NP_000346.2:p.Arg259His
NM_001184726.1:c.695G>A NP_001171655.1:p.Arg232His
NM_000355.4:c.776G>A MANE Select NP_000346.2:p.Arg259His
NM_001184726.2:c.695G>A NP_001171655.1:p.Arg232His