Canonical Allele Identifier: CA751493219

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1271508050
• gnomAD v3: 22-19919368-T-G
• gnomAD v4: 22-19919368-T-G
• MyVariant Identifiers: chr22:g.19906891T>G (hg19) ; chr22:g.19919368T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19919368T>G , CM000684.2:g.19919368T>G	GRCh38
NC_000022.10:g.19906891T>G , CM000684.1:g.19906891T>G	GRCh37
NC_000022.9:g.18286891T>G	NCBI36
NG_011835.1:g.27469A>C , LRG_417:g.27469A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.229+175A>C MANE Select	ENSP00000383365.1:n.229+175A>C
ENST00000334363.14:c.229+175A>C	ENSP00000334451.9:n.229+175A>C
ENST00000400518.5:c.139+175A>C	ENSP00000383362.1:n.139+175A>C
ENST00000400519.6:c.226+175A>C	ENSP00000383363.1:n.226+175A>C
ENST00000400521.6:c.229+175A>C	ENSP00000383365.1:n.229+175A>C
ENST00000400525.6:c.160+175A>C	ENSP00000383369.3:n.160+175A>C
ENST00000474308.5:c.173-364A>C	ENSP00000485665.1:n.173-364A>C
ENST00000491939.6:c.133+175A>C	ENSP00000485543.1:n.133+175A>C
ENST00000496729.2:n.234+175A>C
ENST00000542719.6:c.-60+175A>C	ENSP00000485128.2:n.-60+175A>C
NM_001282512.1:c.229+175A>C	NP_001269441.1:n.229+175A>C
NM_006440.4:c.229+175A>C	NP_006431.2:n.229+175A>C
NM_001282512.2:c.229+175A>C	NP_001269441.1:n.229+175A>C
NM_001352300.1:c.226+175A>C	NP_001339229.1:n.226+175A>C
NM_001352301.1:c.139+175A>C	NP_001339230.1:n.139+175A>C
NM_001352302.1:c.-60+175A>C	NP_001339231.1:n.-60+175A>C
NM_001352303.1:c.133+175A>C	NP_001339232.1:n.133+175A>C
NR_147957.1:n.362-364A>C
NM_006440.5:c.229+175A>C MANE Select	NP_006431.2:n.229+175A>C
NM_001282512.3:c.229+175A>C	NP_001269441.1:n.229+175A>C
NM_001352300.2:c.226+175A>C	NP_001339229.1:n.226+175A>C
NR_147957.2:n.188-364A>C
NM_001352301.2:c.139+175A>C	NP_001339230.1:n.139+175A>C
NM_001352302.2:c.-60+175A>C	NP_001339231.1:n.-60+175A>C
NM_001352303.2:c.133+175A>C	NP_001339232.1:n.133+175A>C