Canonical Allele Identifier: CA10184618
Community Standard Title: NM_000355.4(TCN2):c.424A>G (p.Ile142Val)
Gene: TCN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30613039A>G , CM000684.2:g.30613039A>G GRCh38
NC_000022.10:g.31009026A>G , CM000684.1:g.31009026A>G GRCh37
NC_000022.9:g.29339026A>G NCBI36
NG_007263.1:g.10866A>G , LRG_116:g.10866A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000355.4:c.424A>G MANE Select NP_000346.2:p.Ile142Val
ENST00000215838.8:c.424A>G MANE Select ENSP00000215838.3:p.Ile142Val
NM_000355.3:c.424A>G NP_000346.2:p.Ile142Val
NM_001184726.1:c.346+78A>G NP_001171655.1:n.346+78A>G
NM_001184726.2:c.346+78A>G NP_001171655.1:n.346+78A>G
ENST00000215838.7:c.424A>G ENSP00000215838.3:p.Ile142Val
ENST00000405742.7:c.412A>G ENSP00000385914.3:p.Ile138Val
ENST00000407817.3:c.346+78A>G ENSP00000384914.3:n.346+78A>G
ENST00000450638.5:c.349A>G ENSP00000394184.2:p.Ile117Val
ENST00000471659.2:n.595A>G
ENST00000698263.1:c.424A>G ENSP00000513635.1:p.Ile142Val
ENST00000698264.1:n.595A>G
ENST00000698265.1:c.424A>G ENSP00000513636.1:p.Ile142Val
ENST00000698266.1:c.424A>G ENSP00000513637.1:p.Ile142Val
ENST00000698267.1:c.424A>G ENSP00000513638.1:p.Ile142Val
ENST00000698268.1:c.424A>G ENSP00000513639.1:p.Ile142Val
ENST00000698269.1:c.258-1310A>G ENSP00000513640.1:n.258-1310A>G
ENST00000698270.1:c.424A>G ENSP00000513641.1:p.Ile142Val
ENST00000698271.1:c.424A>G ENSP00000513642.1:p.Ile142Val
ENST00000698272.1:c.424A>G ENSP00000513643.1:p.Ile142Val
ENST00000698273.1:c.415A>G ENSP00000513644.1:p.Ile139Val