Canonical Allele Identifier: CA410686513

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1341680173
• gnomAD v3: 22-19895457-G-A
• gnomAD v4: 22-19895457-G-A
• MyVariant Identifiers: chr22:g.19882980G>A (hg19) ; chr22:g.19895457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895457G>A , CM000684.2:g.19895457G>A	GRCh38
NC_000022.10:g.19882980G>A , CM000684.1:g.19882980G>A	GRCh37
NC_000022.9:g.18262980G>A	NCBI36
NG_011835.1:g.51380C>T , LRG_417:g.51380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.899C>T MANE Select	ENSP00000383365.1:p.Thr300Ile
ENST00000334363.14:c.899C>T	ENSP00000334451.9:p.Thr300Ile
ENST00000400518.5:c.809C>T	ENSP00000383362.1:p.Thr270Ile
ENST00000400519.6:c.896C>T	ENSP00000383363.1:p.Thr299Ile
ENST00000400521.6:c.899C>T	ENSP00000383365.1:p.Thr300Ile
ENST00000400525.6:c.830C>T	ENSP00000383369.3:p.Thr277Ile
ENST00000474308.5:c.842C>T	ENSP00000485665.1:p.Thr281Ile
ENST00000475995.3:c.396C>T
ENST00000491939.6:c.803C>T	ENSP00000485543.1:p.Thr268Ile
ENST00000494454.5:n.973C>T
ENST00000542719.6:c.611C>T	ENSP00000485128.2:p.Thr204Ile
ENST00000634537.1:c.128C>T	ENSP00000489208.1:p.Thr43Ile
ENST00000635155.1:n.485C>T
NM_001282512.1:c.899C>T	NP_001269441.1:p.Thr300Ile
NM_006440.4:c.899C>T	NP_006431.2:p.Thr300Ile
NM_001282512.2:c.899C>T	NP_001269441.1:p.Thr300Ile
NM_001352300.1:c.896C>T	NP_001339229.1:p.Thr299Ile
NM_001352301.1:c.809C>T	NP_001339230.1:p.Thr270Ile
NM_001352302.1:c.611C>T	NP_001339231.1:p.Thr204Ile
NM_001352303.1:c.803C>T	NP_001339232.1:p.Thr268Ile
NR_147957.1:n.1031C>T
NM_006440.5:c.899C>T MANE Select	NP_006431.2:p.Thr300Ile
NM_001282512.3:c.899C>T	NP_001269441.1:p.Thr300Ile
NM_001352300.2:c.896C>T	NP_001339229.1:p.Thr299Ile
NR_147957.2:n.857C>T
NM_001352301.2:c.809C>T	NP_001339230.1:p.Thr270Ile
NM_001352302.2:c.611C>T	NP_001339231.1:p.Thr204Ile
NM_001352303.2:c.803C>T	NP_001339232.1:p.Thr268Ile