Canonical Allele Identifier: CA10184699
Community Standard Title: NM_000355.4(TCN2):c.554C>T (p.Pro185Leu)
Gene: TCN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30614475C>T , CM000684.2:g.30614475C>T GRCh38
NC_000022.10:g.31010462C>T , CM000684.1:g.31010462C>T GRCh37
NC_000022.9:g.29340462C>T NCBI36
NG_007263.1:g.12302C>T , LRG_116:g.12302C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000355.4:c.554C>T MANE Select NP_000346.2:p.Pro185Leu
ENST00000215838.8:c.554C>T MANE Select ENSP00000215838.3:p.Pro185Leu
NM_000355.3:c.554C>T NP_000346.2:p.Pro185Leu
NM_001184726.1:c.473C>T NP_001171655.1:p.Pro158Leu
NM_001184726.2:c.473C>T NP_001171655.1:p.Pro158Leu
ENST00000215838.7:c.554C>T ENSP00000215838.3:p.Pro185Leu
ENST00000405742.7:c.542C>T ENSP00000385914.3:p.Pro181Leu
ENST00000407817.3:c.473C>T ENSP00000384914.3:p.Pro158Leu
ENST00000450638.5:c.479C>T ENSP00000394184.2:p.Pro160Leu
ENST00000471659.2:n.2031C>T
ENST00000698263.1:c.554C>T ENSP00000513635.1:p.Pro185Leu
ENST00000698264.1:n.2031C>T
ENST00000698265.1:c.554C>T ENSP00000513636.1:p.Pro185Leu
ENST00000698266.1:c.554C>T ENSP00000513637.1:p.Pro185Leu
ENST00000698267.1:c.554C>T ENSP00000513638.1:p.Pro185Leu
ENST00000698268.1:c.554C>T ENSP00000513639.1:p.Pro185Leu
ENST00000698269.1:c.*120C>T ENSP00000513640.1:n.*120C>T
ENST00000698270.1:c.428-826C>T ENSP00000513641.1:n.428-826C>T
ENST00000698271.1:c.554C>T ENSP00000513642.1:p.Pro185Leu
ENST00000698272.1:c.554C>T ENSP00000513643.1:p.Pro185Leu
ENST00000698273.1:c.545C>T ENSP00000513644.1:p.Pro182Leu