Canonical Allele Identifier: CA410693903

Gene: TXNRD2

Linked Data

• gnomAD v4: 22-19918943-C-A
• MyVariant Identifiers: chr22:g.19906466C>A (hg19) ; chr22:g.19918943C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918943C>A , CM000684.2:g.19918943C>A	GRCh38
NC_000022.10:g.19906466C>A , CM000684.1:g.19906466C>A	GRCh37
NC_000022.9:g.18286466C>A	NCBI36
NG_011835.1:g.27894G>T , LRG_417:g.27894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.291G>T MANE Select	ENSP00000383365.1:p.Met97Ile
ENST00000334363.14:c.291G>T	ENSP00000334451.9:p.Met97Ile
ENST00000400518.5:c.201G>T	ENSP00000383362.1:p.Met67Ile
ENST00000400519.6:c.288G>T	ENSP00000383363.1:p.Met96Ile
ENST00000400521.6:c.291G>T	ENSP00000383365.1:p.Met97Ile
ENST00000400525.6:c.222G>T	ENSP00000383369.3:p.Met74Ile
ENST00000474308.5:c.234G>T	ENSP00000485665.1:p.Met78Ile
ENST00000491939.6:c.195G>T	ENSP00000485543.1:p.Met65Ile
ENST00000496729.2:n.296G>T
ENST00000542719.6:c.3G>T	ENSP00000485128.2:p.Met1Ile
NM_001282512.1:c.291G>T	NP_001269441.1:p.Met97Ile
NM_006440.4:c.291G>T	NP_006431.2:p.Met97Ile
NM_001282512.2:c.291G>T	NP_001269441.1:p.Met97Ile
NM_001352300.1:c.288G>T	NP_001339229.1:p.Met96Ile
NM_001352301.1:c.201G>T	NP_001339230.1:p.Met67Ile
NM_001352302.1:c.3G>T	NP_001339231.1:p.Met1Ile
NM_001352303.1:c.195G>T	NP_001339232.1:p.Met65Ile
NR_147957.1:n.423G>T
NM_006440.5:c.291G>T MANE Select	NP_006431.2:p.Met97Ile
NM_001282512.3:c.291G>T	NP_001269441.1:p.Met97Ile
NM_001352300.2:c.288G>T	NP_001339229.1:p.Met96Ile
NR_147957.2:n.249G>T
NM_001352301.2:c.201G>T	NP_001339230.1:p.Met67Ile
NM_001352302.2:c.3G>T	NP_001339231.1:p.Met1Ile
NM_001352303.2:c.195G>T	NP_001339232.1:p.Met65Ile