Canonical Allele Identifier: CA411208632

Gene: TCN2

Linked Data

• gnomAD v4: 22-30612953-G-C
• MyVariant Identifiers: chr22:g.31008940G>C (hg19) ; chr22:g.30612953G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.30612953G>C , CM000684.2:g.30612953G>C	GRCh38
NC_000022.10:g.31008940G>C , CM000684.1:g.31008940G>C	GRCh37
NC_000022.9:g.29338940G>C	NCBI36
NG_007263.1:g.10780G>C , LRG_116:g.10780G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471659.2:n.509G>C
ENST00000698263.1:c.338G>C	ENSP00000513635.1:p.Arg113Thr
ENST00000698264.1:n.509G>C
ENST00000698265.1:c.338G>C	ENSP00000513636.1:p.Arg113Thr
ENST00000698266.1:c.338G>C	ENSP00000513637.1:p.Arg113Thr
ENST00000698267.1:c.338G>C	ENSP00000513638.1:p.Arg113Thr
ENST00000698268.1:c.338G>C	ENSP00000513639.1:p.Arg113Thr
ENST00000698269.1:c.258-1396G>C	ENSP00000513640.1:n.258-1396G>C
ENST00000698270.1:c.338G>C	ENSP00000513641.1:p.Arg113Thr
ENST00000698271.1:c.338G>C	ENSP00000513642.1:p.Arg113Thr
ENST00000698272.1:c.338G>C	ENSP00000513643.1:p.Arg113Thr
ENST00000698273.1:c.329G>C	ENSP00000513644.1:p.Arg110Thr
ENST00000215838.8:c.338G>C MANE Select	ENSP00000215838.3:p.Arg113Thr
ENST00000215838.7:c.338G>C	ENSP00000215838.3:p.Arg113Thr
ENST00000405742.7:c.326G>C	ENSP00000385914.3:p.Arg109Thr
ENST00000407817.3:c.338G>C	ENSP00000384914.3:p.Arg113Thr
ENST00000450638.5:c.263G>C	ENSP00000394184.2:p.Arg88Thr
NM_000355.3:c.338G>C	NP_000346.2:p.Arg113Thr
NM_001184726.1:c.338G>C	NP_001171655.1:p.Arg113Thr
NM_000355.4:c.338G>C MANE Select	NP_000346.2:p.Arg113Thr
NM_001184726.2:c.338G>C	NP_001171655.1:p.Arg113Thr