Canonical Allele Identifier: CA410682061

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19868233G>A (hg19) ; chr22:g.19880710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880710G>A , CM000684.2:g.19880710G>A	GRCh38
NC_000022.10:g.19868233G>A , CM000684.1:g.19868233G>A	GRCh37
NC_000022.9:g.18248233G>A	NCBI36
NG_011835.1:g.66127C>T , LRG_417:g.66127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1094C>T MANE Select	ENSP00000383365.1:p.Pro365Leu
ENST00000400518.5:c.1004C>T	ENSP00000383362.1:p.Pro335Leu
ENST00000400519.6:c.1091C>T	ENSP00000383363.1:p.Pro364Leu
ENST00000400521.6:c.1094C>T	ENSP00000383365.1:p.Pro365Leu
ENST00000400525.6:c.1025C>T	ENSP00000383369.3:p.Pro342Leu
ENST00000462330.5:c.17C>T	ENSP00000485603.2:p.Pro6Leu
ENST00000462843.2:c.44C>T	ENSP00000485466.2:p.Pro15Leu
ENST00000474308.5:c.1037C>T	ENSP00000485665.1:p.Pro346Leu
ENST00000485358.5:c.62C>T	ENSP00000485499.2:p.Pro21Leu
ENST00000487165.5:n.1188C>T
ENST00000494454.5:n.1168C>T
ENST00000495655.2:n.638C>T
ENST00000542719.6:c.806C>T	ENSP00000485128.2:p.Pro269Leu
ENST00000634471.1:n.244-439C>T
ENST00000634537.1:c.323C>T	ENSP00000489208.1:p.Pro108Leu
NM_006440.4:c.1094C>T	NP_006431.2:p.Pro365Leu
NM_001352300.1:c.1091C>T	NP_001339229.1:p.Pro364Leu
NM_001352301.1:c.1004C>T	NP_001339230.1:p.Pro335Leu
NM_001352302.1:c.806C>T	NP_001339231.1:p.Pro269Leu
NR_147957.1:n.1226C>T
NM_006440.5:c.1094C>T MANE Select	NP_006431.2:p.Pro365Leu
NM_001352300.2:c.1091C>T	NP_001339229.1:p.Pro364Leu
NR_147957.2:n.1052C>T
NM_001352301.2:c.1004C>T	NP_001339230.1:p.Pro335Leu
NM_001352302.2:c.806C>T	NP_001339231.1:p.Pro269Leu