Canonical Allele Identifier: CA410681894
Gene: TXNRD2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19880629T>G , CM000684.2:g.19880629T>G GRCh38
NC_000022.10:g.19868152T>G , CM000684.1:g.19868152T>G GRCh37
NC_000022.9:g.18248152T>G NCBI36
NG_011835.1:g.66208A>C , LRG_417:g.66208A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.1175A>C MANE Select ENSP00000383365.1:p.Tyr392Ser
ENST00000400518.5:c.1085A>C ENSP00000383362.1:p.Tyr362Ser
ENST00000400519.6:c.1172A>C ENSP00000383363.1:p.Tyr391Ser
ENST00000400521.6:c.1175A>C ENSP00000383365.1:p.Tyr392Ser
ENST00000400525.6:c.1106A>C ENSP00000383369.3:p.Tyr369Ser
ENST00000462330.5:c.98A>C ENSP00000485603.2:p.Tyr33Ser
ENST00000462843.2:c.125A>C ENSP00000485466.2:p.Tyr42Ser
ENST00000474308.5:c.1118A>C ENSP00000485665.1:p.Tyr373Ser
ENST00000485358.5:c.143A>C ENSP00000485499.2:p.Tyr48Ser
ENST00000487165.5:n.1269A>C
ENST00000494454.5:n.1249A>C
ENST00000495655.2:n.719A>C
ENST00000542719.6:c.887A>C ENSP00000485128.2:p.Tyr296Ser
ENST00000634471.1:n.244-358A>C
ENST00000634537.1:c.404A>C ENSP00000489208.1:p.Tyr135Ser
NM_006440.4:c.1175A>C NP_006431.2:p.Tyr392Ser
NM_001352300.1:c.1172A>C NP_001339229.1:p.Tyr391Ser
NM_001352301.1:c.1085A>C NP_001339230.1:p.Tyr362Ser
NM_001352302.1:c.887A>C NP_001339231.1:p.Tyr296Ser
NR_147957.1:n.1307A>C
NM_006440.5:c.1175A>C MANE Select NP_006431.2:p.Tyr392Ser
NM_001352300.2:c.1172A>C NP_001339229.1:p.Tyr391Ser
NR_147957.2:n.1133A>C
NM_001352301.2:c.1085A>C NP_001339230.1:p.Tyr362Ser
NM_001352302.2:c.887A>C NP_001339231.1:p.Tyr296Ser