Canonical Allele Identifier: CA411212951
Community Standard Title: NM_000355.4(TCN2):c.754T>C (p.Phe252Leu)
Gene: TCN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30615601T>C , CM000684.2:g.30615601T>C GRCh38
NC_000022.10:g.31011588T>C , CM000684.1:g.31011588T>C GRCh37
NC_000022.9:g.29341588T>C NCBI36
NG_007263.1:g.13428T>C , LRG_116:g.13428T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000355.4:c.754T>C MANE Select NP_000346.2:p.Phe252Leu
ENST00000215838.8:c.754T>C MANE Select ENSP00000215838.3:p.Phe252Leu
NM_000355.3:c.754T>C NP_000346.2:p.Phe252Leu
NM_001184726.1:c.673T>C NP_001171655.1:p.Phe225Leu
NM_001184726.2:c.673T>C NP_001171655.1:p.Phe225Leu
ENST00000215838.7:c.754T>C ENSP00000215838.3:p.Phe252Leu
ENST00000405742.7:c.742T>C ENSP00000385914.3:p.Phe248Leu
ENST00000407817.3:c.673T>C ENSP00000384914.3:p.Phe225Leu
ENST00000450638.5:c.679T>C ENSP00000394184.2:p.Phe227Leu
ENST00000471659.2:n.2231T>C
ENST00000698263.1:c.754T>C ENSP00000513635.1:p.Phe252Leu
ENST00000698264.1:n.2231T>C
ENST00000698265.1:c.754T>C ENSP00000513636.1:p.Phe252Leu
ENST00000698266.1:c.754T>C ENSP00000513637.1:p.Phe252Leu
ENST00000698267.1:c.754T>C ENSP00000513638.1:p.Phe252Leu
ENST00000698268.1:c.754T>C ENSP00000513639.1:p.Phe252Leu
ENST00000698269.1:c.*320T>C ENSP00000513640.1:n.*320T>C
ENST00000698270.1:c.601T>C ENSP00000513641.1:p.Phe201Leu
ENST00000698271.1:c.784T>C ENSP00000513642.1:p.Phe262Leu
ENST00000698272.1:c.745T>C ENSP00000513643.1:p.Phe249Leu
ENST00000698273.1:c.745T>C ENSP00000513644.1:p.Phe249Leu