Canonical Allele Identifier: CA10103778

Gene: TXNRD2

Linked Data

• dbSNP Id: rs758236709
• ExAC: 22:19868158 A / G
• gnomAD v2: 22-19868158-A-G
• gnomAD v4: 22-19880635-A-G
• MyVariant Identifiers: chr22:g.19868158A>G (hg19) ; chr22:g.19880635A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880635A>G , CM000684.2:g.19880635A>G	GRCh38
NC_000022.10:g.19868158A>G , CM000684.1:g.19868158A>G	GRCh37
NC_000022.9:g.18248158A>G	NCBI36
NG_011835.1:g.66202T>C , LRG_417:g.66202T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1169T>C MANE Select	ENSP00000383365.1:p.Met390Thr
ENST00000400518.5:c.1079T>C	ENSP00000383362.1:p.Met360Thr
ENST00000400519.6:c.1166T>C	ENSP00000383363.1:p.Met389Thr
ENST00000400521.6:c.1169T>C	ENSP00000383365.1:p.Met390Thr
ENST00000400525.6:c.1100T>C	ENSP00000383369.3:p.Met367Thr
ENST00000462330.5:c.92T>C	ENSP00000485603.2:p.Met31Thr
ENST00000462843.2:c.119T>C	ENSP00000485466.2:p.Met40Thr
ENST00000474308.5:c.1112T>C	ENSP00000485665.1:p.Met371Thr
ENST00000485358.5:c.137T>C	ENSP00000485499.2:p.Met46Thr
ENST00000487165.5:n.1263T>C
ENST00000494454.5:n.1243T>C
ENST00000495655.2:n.713T>C
ENST00000542719.6:c.881T>C	ENSP00000485128.2:p.Met294Thr
ENST00000634471.1:n.244-364T>C
ENST00000634537.1:c.398T>C	ENSP00000489208.1:p.Met133Thr
NM_006440.4:c.1169T>C	NP_006431.2:p.Met390Thr
NM_001352300.1:c.1166T>C	NP_001339229.1:p.Met389Thr
NM_001352301.1:c.1079T>C	NP_001339230.1:p.Met360Thr
NM_001352302.1:c.881T>C	NP_001339231.1:p.Met294Thr
NR_147957.1:n.1301T>C
NM_006440.5:c.1169T>C MANE Select	NP_006431.2:p.Met390Thr
NM_001352300.2:c.1166T>C	NP_001339229.1:p.Met389Thr
NR_147957.2:n.1127T>C
NM_001352301.2:c.1079T>C	NP_001339230.1:p.Met360Thr
NM_001352302.2:c.881T>C	NP_001339231.1:p.Met294Thr