Canonical Allele Identifier: CA10103905

Gene: TXNRD2

Linked Data

• dbSNP Id: rs755756262
• ExAC: 22:19882679 C / G
• gnomAD v2: 22-19882679-C-G
• gnomAD v3: 22-19895156-C-G
• gnomAD v4: 22-19895156-C-G
• MyVariant Identifiers: chr22:g.19882679C>G (hg19) ; chr22:g.19895156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895156C>G , CM000684.2:g.19895156C>G	GRCh38
NC_000022.10:g.19882679C>G , CM000684.1:g.19882679C>G	GRCh37
NC_000022.9:g.18262679C>G	NCBI36
NG_011835.1:g.51681G>C , LRG_417:g.51681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.949+251G>C MANE Select	ENSP00000383365.1:n.949+251G>C
ENST00000334363.14:c.994G>C	ENSP00000334451.9:p.Gly332Arg
ENST00000400518.5:c.859+251G>C	ENSP00000383362.1:n.859+251G>C
ENST00000400519.6:c.946+251G>C	ENSP00000383363.1:n.946+251G>C
ENST00000400521.6:c.949+251G>C	ENSP00000383365.1:n.949+251G>C
ENST00000400525.6:c.880+251G>C	ENSP00000383369.3:n.880+251G>C
ENST00000474308.5:c.892+251G>C	ENSP00000485665.1:n.892+251G>C
ENST00000475995.3:c.611G>C
ENST00000491939.6:c.898G>C	ENSP00000485543.1:p.Gly300Arg
ENST00000494454.5:n.1023+251G>C
ENST00000542719.6:c.661+251G>C	ENSP00000485128.2:n.661+251G>C
ENST00000634537.1:c.178+251G>C	ENSP00000489208.1:n.178+251G>C
ENST00000635155.1:n.535+251G>C
NM_001282512.1:c.994G>C	NP_001269441.1:p.Gly332Arg
NM_006440.4:c.949+251G>C	NP_006431.2:n.949+251G>C
NM_001282512.2:c.994G>C	NP_001269441.1:p.Gly332Arg
NM_001352300.1:c.946+251G>C	NP_001339229.1:n.946+251G>C
NM_001352301.1:c.859+251G>C	NP_001339230.1:n.859+251G>C
NM_001352302.1:c.661+251G>C	NP_001339231.1:n.661+251G>C
NM_001352303.1:c.898G>C	NP_001339232.1:p.Gly300Arg
NR_147957.1:n.1081+251G>C
NM_006440.5:c.949+251G>C MANE Select	NP_006431.2:n.949+251G>C
NM_001282512.3:c.994G>C	NP_001269441.1:p.Gly332Arg
NM_001352300.2:c.946+251G>C	NP_001339229.1:n.946+251G>C
NR_147957.2:n.907+251G>C
NM_001352301.2:c.859+251G>C	NP_001339230.1:n.859+251G>C
NM_001352302.2:c.661+251G>C	NP_001339231.1:n.661+251G>C
NM_001352303.2:c.898G>C	NP_001339232.1:p.Gly300Arg