Canonical Allele Identifier: CA411208640

Gene: TCN2

Linked Data

• ClinVar Variation Id: 2002361
• ClinVar RCV Id: RCV002820350
• dbSNP Id: rs1212779849
• gnomAD v2: 22-31008942-G-A
• gnomAD v4: 22-30612955-G-A
• MyVariant Identifiers: chr22:g.31008942G>A (hg19) ; chr22:g.30612955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30612955G>A , CM000684.2:g.30612955G>A	GRCh38
NC_000022.10:g.31008942G>A , CM000684.1:g.31008942G>A	GRCh37
NC_000022.9:g.29338942G>A	NCBI36
NG_007263.1:g.10782G>A , LRG_116:g.10782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471659.2:n.511G>A
ENST00000698263.1:c.340G>A	ENSP00000513635.1:p.Ala114Thr
ENST00000698264.1:n.511G>A
ENST00000698265.1:c.340G>A	ENSP00000513636.1:p.Ala114Thr
ENST00000698266.1:c.340G>A	ENSP00000513637.1:p.Ala114Thr
ENST00000698267.1:c.340G>A	ENSP00000513638.1:p.Ala114Thr
ENST00000698268.1:c.340G>A	ENSP00000513639.1:p.Ala114Thr
ENST00000698269.1:c.258-1394G>A	ENSP00000513640.1:n.258-1394G>A
ENST00000698270.1:c.340G>A	ENSP00000513641.1:p.Ala114Thr
ENST00000698271.1:c.340G>A	ENSP00000513642.1:p.Ala114Thr
ENST00000698272.1:c.340G>A	ENSP00000513643.1:p.Ala114Thr
ENST00000698273.1:c.331G>A	ENSP00000513644.1:p.Ala111Thr
ENST00000215838.8:c.340G>A MANE Select	ENSP00000215838.3:p.Ala114Thr
ENST00000215838.7:c.340G>A	ENSP00000215838.3:p.Ala114Thr
ENST00000405742.7:c.328G>A	ENSP00000385914.3:p.Ala110Thr
ENST00000407817.3:c.340G>A	ENSP00000384914.3:p.Ala114Thr
ENST00000450638.5:c.265G>A	ENSP00000394184.2:p.Ala89Thr
NM_000355.3:c.340G>A	NP_000346.2:p.Ala114Thr
NM_001184726.1:c.340G>A	NP_001171655.1:p.Ala114Thr
NM_000355.4:c.340G>A MANE Select	NP_000346.2:p.Ala114Thr
NM_001184726.2:c.340G>A	NP_001171655.1:p.Ala114Thr