Canonical Allele Identifier: CA10104126
Community Standard Title: NM_006440.5(TXNRD2):c.575C>T (p.Pro192Leu)
Gene: TXNRD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19915230G>A , CM000684.2:g.19915230G>A GRCh38
NC_000022.10:g.19902753G>A , CM000684.1:g.19902753G>A GRCh37
NC_000022.9:g.18282753G>A NCBI36
NG_011835.1:g.31607C>T , LRG_417:g.31607C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006440.5:c.575C>T MANE Select NP_006431.2:p.Pro192Leu
ENST00000400521.7:c.575C>T MANE Select ENSP00000383365.1:p.Pro192Leu
NM_001282512.1:c.575C>T NP_001269441.1:p.Pro192Leu
NM_001282512.2:c.575C>T NP_001269441.1:p.Pro192Leu
NM_001282512.3:c.575C>T NP_001269441.1:p.Pro192Leu
NM_001352300.1:c.572C>T NP_001339229.1:p.Pro191Leu
NM_001352300.2:c.572C>T NP_001339229.1:p.Pro191Leu
NM_001352301.1:c.485C>T NP_001339230.1:p.Pro162Leu
NM_001352301.2:c.485C>T NP_001339230.1:p.Pro162Leu
NM_001352302.1:c.287C>T NP_001339231.1:p.Pro96Leu
NM_001352302.2:c.287C>T NP_001339231.1:p.Pro96Leu
NM_001352303.1:c.479C>T NP_001339232.1:p.Pro160Leu
NM_001352303.2:c.479C>T NP_001339232.1:p.Pro160Leu
NM_006440.4:c.575C>T NP_006431.2:p.Pro192Leu
NR_147957.1:n.707C>T
NR_147957.2:n.533C>T
ENST00000334363.14:c.575C>T ENSP00000334451.9:p.Pro192Leu
ENST00000400518.5:c.485C>T ENSP00000383362.1:p.Pro162Leu
ENST00000400519.6:c.572C>T ENSP00000383363.1:p.Pro191Leu
ENST00000400521.6:c.575C>T ENSP00000383365.1:p.Pro192Leu
ENST00000400525.6:c.506C>T ENSP00000383369.3:p.Pro169Leu
ENST00000471835.1:n.120C>T
ENST00000474308.5:c.518C>T ENSP00000485665.1:p.Pro173Leu
ENST00000475995.3:c.72C>T
ENST00000484672.5:n.205C>T
ENST00000491939.6:c.479C>T ENSP00000485543.1:p.Pro160Leu
ENST00000494454.5:n.649C>T
ENST00000496729.2:n.580C>T
ENST00000542719.6:c.287C>T ENSP00000485128.2:p.Pro96Leu
ENST00000635155.1:n.161C>T