Canonical Allele Identifier: CA411208575

Gene: TCN2

Linked Data

• ClinVar Variation Id: 2540618
• ClinVar RCV Id: RCV003271898
• dbSNP Id: rs778150805
• gnomAD v3: 22-30612946-G-T
• gnomAD v4: 22-30612946-G-T
• MyVariant Identifiers: chr22:g.31008933G>T (hg19) ; chr22:g.30612946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30612946G>T , CM000684.2:g.30612946G>T	GRCh38
NC_000022.10:g.31008933G>T , CM000684.1:g.31008933G>T	GRCh37
NC_000022.9:g.29338933G>T	NCBI36
NG_007263.1:g.10773G>T , LRG_116:g.10773G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471659.2:n.502G>T
ENST00000698263.1:c.331G>T	ENSP00000513635.1:p.Ala111Ser
ENST00000698264.1:n.502G>T
ENST00000698265.1:c.331G>T	ENSP00000513636.1:p.Ala111Ser
ENST00000698266.1:c.331G>T	ENSP00000513637.1:p.Ala111Ser
ENST00000698267.1:c.331G>T	ENSP00000513638.1:p.Ala111Ser
ENST00000698268.1:c.331G>T	ENSP00000513639.1:p.Ala111Ser
ENST00000698269.1:c.258-1403G>T	ENSP00000513640.1:n.258-1403G>T
ENST00000698270.1:c.331G>T	ENSP00000513641.1:p.Ala111Ser
ENST00000698271.1:c.331G>T	ENSP00000513642.1:p.Ala111Ser
ENST00000698272.1:c.331G>T	ENSP00000513643.1:p.Ala111Ser
ENST00000698273.1:c.322G>T	ENSP00000513644.1:p.Ala108Ser
ENST00000215838.8:c.331G>T MANE Select	ENSP00000215838.3:p.Ala111Ser
ENST00000215838.7:c.331G>T	ENSP00000215838.3:p.Ala111Ser
ENST00000405742.7:c.319G>T	ENSP00000385914.3:p.Ala107Ser
ENST00000407817.3:c.331G>T	ENSP00000384914.3:p.Ala111Ser
ENST00000450638.5:c.256G>T	ENSP00000394184.2:p.Ala86Ser
NM_000355.3:c.331G>T	NP_000346.2:p.Ala111Ser
NM_001184726.1:c.331G>T	NP_001171655.1:p.Ala111Ser
NM_000355.4:c.331G>T MANE Select	NP_000346.2:p.Ala111Ser
NM_001184726.2:c.331G>T	NP_001171655.1:p.Ala111Ser