Canonical Allele Identifier: CA410681951

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19868180A>G (hg19) ; chr22:g.19880657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880657A>G , CM000684.2:g.19880657A>G	GRCh38
NC_000022.10:g.19868180A>G , CM000684.1:g.19868180A>G	GRCh37
NC_000022.9:g.18248180A>G	NCBI36
NG_011835.1:g.66180T>C , LRG_417:g.66180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1147T>C MANE Select	ENSP00000383365.1:p.Phe383Leu
ENST00000400518.5:c.1057T>C	ENSP00000383362.1:p.Phe353Leu
ENST00000400519.6:c.1144T>C	ENSP00000383363.1:p.Phe382Leu
ENST00000400521.6:c.1147T>C	ENSP00000383365.1:p.Phe383Leu
ENST00000400525.6:c.1078T>C	ENSP00000383369.3:p.Phe360Leu
ENST00000462330.5:c.70T>C	ENSP00000485603.2:p.Phe24Leu
ENST00000462843.2:c.97T>C	ENSP00000485466.2:p.Phe33Leu
ENST00000474308.5:c.1090T>C	ENSP00000485665.1:p.Phe364Leu
ENST00000485358.5:c.115T>C	ENSP00000485499.2:p.Phe39Leu
ENST00000487165.5:n.1241T>C
ENST00000494454.5:n.1221T>C
ENST00000495655.2:n.691T>C
ENST00000542719.6:c.859T>C	ENSP00000485128.2:p.Phe287Leu
ENST00000634471.1:n.244-386T>C
ENST00000634537.1:c.376T>C	ENSP00000489208.1:p.Phe126Leu
NM_006440.4:c.1147T>C	NP_006431.2:p.Phe383Leu
NM_001352300.1:c.1144T>C	NP_001339229.1:p.Phe382Leu
NM_001352301.1:c.1057T>C	NP_001339230.1:p.Phe353Leu
NM_001352302.1:c.859T>C	NP_001339231.1:p.Phe287Leu
NR_147957.1:n.1279T>C
NM_006440.5:c.1147T>C MANE Select	NP_006431.2:p.Phe383Leu
NM_001352300.2:c.1144T>C	NP_001339229.1:p.Phe382Leu
NR_147957.2:n.1105T>C
NM_001352301.2:c.1057T>C	NP_001339230.1:p.Phe353Leu
NM_001352302.2:c.859T>C	NP_001339231.1:p.Phe287Leu