Canonical Allele Identifier: CA10184697
Community Standard Title: NM_000355.4(TCN2):c.547G>A (p.Val183Met)
Gene: TCN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30614468G>A , CM000684.2:g.30614468G>A GRCh38
NC_000022.10:g.31010455G>A , CM000684.1:g.31010455G>A GRCh37
NC_000022.9:g.29340455G>A NCBI36
NG_007263.1:g.12295G>A , LRG_116:g.12295G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000355.4:c.547G>A MANE Select NP_000346.2:p.Val183Met
ENST00000215838.8:c.547G>A MANE Select ENSP00000215838.3:p.Val183Met
NM_000355.3:c.547G>A NP_000346.2:p.Val183Met
NM_001184726.1:c.466G>A NP_001171655.1:p.Val156Met
NM_001184726.2:c.466G>A NP_001171655.1:p.Val156Met
ENST00000215838.7:c.547G>A ENSP00000215838.3:p.Val183Met
ENST00000405742.7:c.535G>A ENSP00000385914.3:p.Val179Met
ENST00000407817.3:c.466G>A ENSP00000384914.3:p.Val156Met
ENST00000450638.5:c.472G>A ENSP00000394184.2:p.Val158Met
ENST00000471659.2:n.2024G>A
ENST00000698263.1:c.547G>A ENSP00000513635.1:p.Val183Met
ENST00000698264.1:n.2024G>A
ENST00000698265.1:c.547G>A ENSP00000513636.1:p.Val183Met
ENST00000698266.1:c.547G>A ENSP00000513637.1:p.Val183Met
ENST00000698267.1:c.547G>A ENSP00000513638.1:p.Val183Met
ENST00000698268.1:c.547G>A ENSP00000513639.1:p.Val183Met
ENST00000698269.1:c.*113G>A ENSP00000513640.1:n.*113G>A
ENST00000698270.1:c.428-833G>A ENSP00000513641.1:n.428-833G>A
ENST00000698271.1:c.547G>A ENSP00000513642.1:p.Val183Met
ENST00000698272.1:c.547G>A ENSP00000513643.1:p.Val183Met
ENST00000698273.1:c.538G>A ENSP00000513644.1:p.Val180Met