Canonical Allele Identifier: CA322092498

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1022855089
• gnomAD v2: 22-19868231-C-G
• gnomAD v3: 22-19880708-C-G
• gnomAD v4: 22-19880708-C-G
• MyVariant Identifiers: chr22:g.19868231C>G (hg19) ; chr22:g.19880708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880708C>G , CM000684.2:g.19880708C>G	GRCh38
NC_000022.10:g.19868231C>G , CM000684.1:g.19868231C>G	GRCh37
NC_000022.9:g.18248231C>G	NCBI36
NG_011835.1:g.66129G>C , LRG_417:g.66129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1096G>C MANE Select	ENSP00000383365.1:p.Glu366Gln
ENST00000400518.5:c.1006G>C	ENSP00000383362.1:p.Glu336Gln
ENST00000400519.6:c.1093G>C	ENSP00000383363.1:p.Glu365Gln
ENST00000400521.6:c.1096G>C	ENSP00000383365.1:p.Glu366Gln
ENST00000400525.6:c.1027G>C	ENSP00000383369.3:p.Glu343Gln
ENST00000462330.5:c.19G>C	ENSP00000485603.2:p.Glu7Gln
ENST00000462843.2:c.46G>C	ENSP00000485466.2:p.Glu16Gln
ENST00000474308.5:c.1039G>C	ENSP00000485665.1:p.Glu347Gln
ENST00000485358.5:c.64G>C	ENSP00000485499.2:p.Glu22Gln
ENST00000487165.5:n.1190G>C
ENST00000494454.5:n.1170G>C
ENST00000495655.2:n.640G>C
ENST00000542719.6:c.808G>C	ENSP00000485128.2:p.Glu270Gln
ENST00000634471.1:n.244-437G>C
ENST00000634537.1:c.325G>C	ENSP00000489208.1:p.Glu109Gln
NM_006440.4:c.1096G>C	NP_006431.2:p.Glu366Gln
NM_001352300.1:c.1093G>C	NP_001339229.1:p.Glu365Gln
NM_001352301.1:c.1006G>C	NP_001339230.1:p.Glu336Gln
NM_001352302.1:c.808G>C	NP_001339231.1:p.Glu270Gln
NR_147957.1:n.1228G>C
NM_006440.5:c.1096G>C MANE Select	NP_006431.2:p.Glu366Gln
NM_001352300.2:c.1093G>C	NP_001339229.1:p.Glu365Gln
NR_147957.2:n.1054G>C
NM_001352301.2:c.1006G>C	NP_001339230.1:p.Glu336Gln
NM_001352302.2:c.808G>C	NP_001339231.1:p.Glu270Gln