Canonical Allele Identifier: CA411208621

Gene: TCN2

Linked Data

• gnomAD v4: 22-30612950-T-G
• MyVariant Identifiers: chr22:g.31008937T>G (hg19) ; chr22:g.30612950T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30612950T>G , CM000684.2:g.30612950T>G	GRCh38
NC_000022.10:g.31008937T>G , CM000684.1:g.31008937T>G	GRCh37
NC_000022.9:g.29338937T>G	NCBI36
NG_007263.1:g.10777T>G , LRG_116:g.10777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471659.2:n.506T>G
ENST00000698263.1:c.335T>G	ENSP00000513635.1:p.Leu112Arg
ENST00000698264.1:n.506T>G
ENST00000698265.1:c.335T>G	ENSP00000513636.1:p.Leu112Arg
ENST00000698266.1:c.335T>G	ENSP00000513637.1:p.Leu112Arg
ENST00000698267.1:c.335T>G	ENSP00000513638.1:p.Leu112Arg
ENST00000698268.1:c.335T>G	ENSP00000513639.1:p.Leu112Arg
ENST00000698269.1:c.258-1399T>G	ENSP00000513640.1:n.258-1399T>G
ENST00000698270.1:c.335T>G	ENSP00000513641.1:p.Leu112Arg
ENST00000698271.1:c.335T>G	ENSP00000513642.1:p.Leu112Arg
ENST00000698272.1:c.335T>G	ENSP00000513643.1:p.Leu112Arg
ENST00000698273.1:c.326T>G	ENSP00000513644.1:p.Leu109Arg
ENST00000215838.8:c.335T>G MANE Select	ENSP00000215838.3:p.Leu112Arg
ENST00000215838.7:c.335T>G	ENSP00000215838.3:p.Leu112Arg
ENST00000405742.7:c.323T>G	ENSP00000385914.3:p.Leu108Arg
ENST00000407817.3:c.335T>G	ENSP00000384914.3:p.Leu112Arg
ENST00000450638.5:c.260T>G	ENSP00000394184.2:p.Leu87Arg
NM_000355.3:c.335T>G	NP_000346.2:p.Leu112Arg
NM_001184726.1:c.335T>G	NP_001171655.1:p.Leu112Arg
NM_000355.4:c.335T>G MANE Select	NP_000346.2:p.Leu112Arg
NM_001184726.2:c.335T>G	NP_001171655.1:p.Leu112Arg