Canonical Allele Identifier: CA513369068

Gene: TXNRD2

Linked Data

• dbSNP Id: rs769625214
• gnomAD v2: 22-19906439-C-A
• gnomAD v4: 22-19918916-C-A
• MyVariant Identifiers: chr22:g.19906439C>A (hg19) ; chr22:g.19918916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918916C>A , CM000684.2:g.19918916C>A	GRCh38
NC_000022.10:g.19906439C>A , CM000684.1:g.19906439C>A	GRCh37
NC_000022.9:g.18286439C>A	NCBI36
NG_011835.1:g.27921G>T , LRG_417:g.27921G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.318G>T MANE Select	ENSP00000383365.1:p.Leu106=
ENST00000334363.14:c.318G>T	ENSP00000334451.9:p.Leu106=
ENST00000400518.5:c.228G>T	ENSP00000383362.1:p.Leu76=
ENST00000400519.6:c.315G>T	ENSP00000383363.1:p.Leu105=
ENST00000400521.6:c.318G>T	ENSP00000383365.1:p.Leu106=
ENST00000400525.6:c.249G>T	ENSP00000383369.3:p.Leu83=
ENST00000474308.5:c.261G>T	ENSP00000485665.1:p.Leu87=
ENST00000491939.6:c.222G>T	ENSP00000485543.1:p.Leu74=
ENST00000496729.2:n.323G>T
ENST00000542719.6:c.30G>T	ENSP00000485128.2:p.Leu10=
NM_001282512.1:c.318G>T	NP_001269441.1:p.Leu106=
NM_006440.4:c.318G>T	NP_006431.2:p.Leu106=
NM_001282512.2:c.318G>T	NP_001269441.1:p.Leu106=
NM_001352300.1:c.315G>T	NP_001339229.1:p.Leu105=
NM_001352301.1:c.228G>T	NP_001339230.1:p.Leu76=
NM_001352302.1:c.30G>T	NP_001339231.1:p.Leu10=
NM_001352303.1:c.222G>T	NP_001339232.1:p.Leu74=
NR_147957.1:n.450G>T
NM_006440.5:c.318G>T MANE Select	NP_006431.2:p.Leu106=
NM_001282512.3:c.318G>T	NP_001269441.1:p.Leu106=
NM_001352300.2:c.315G>T	NP_001339229.1:p.Leu105=
NR_147957.2:n.276G>T
NM_001352301.2:c.228G>T	NP_001339230.1:p.Leu76=
NM_001352302.2:c.30G>T	NP_001339231.1:p.Leu10=
NM_001352303.2:c.222G>T	NP_001339232.1:p.Leu74=