Canonical Allele Identifier: CA2524814750

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19941413A>G , CM000684.2:g.19941413A>G GRCh38
NC_000022.10:g.19928936A>G , CM000684.1:g.19928936A>G GRCh37
NC_000022.9:g.18308936A>G NCBI36
NG_011526.1:g.4674A>G
NG_011835.1:g.5424T>C , LRG_417:g.5424T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.103+288T>C (TXNRD2) MANE Select ENSP00000383365.1:n.103+288T>C
ENST00000676678.1:c.-254A>G (COMT) ENSP00000503719.1:n.-254A>G
ENST00000334363.14:c.103+288T>C (TXNRD2) ENSP00000334451.9:n.103+288T>C
ENST00000400519.6:c.103+288T>C (TXNRD2) ENSP00000383363.1:n.103+288T>C
ENST00000400521.6:c.103+288T>C (TXNRD2) ENSP00000383365.1:n.103+288T>C
ENST00000400525.6:c.103+288T>C (TXNRD2) ENSP00000383369.3:n.103+288T>C
ENST00000474308.5:c.103+288T>C (TXNRD2) ENSP00000485665.1:n.103+288T>C
ENST00000496729.2:n.108+288T>C (TXNRD2)
NM_001282512.1:c.103+288T>C (TXNRD2) NP_001269441.1:n.103+288T>C
NM_006440.4:c.103+288T>C (TXNRD2) NP_006431.2:n.103+288T>C
NM_001282512.2:c.103+288T>C (TXNRD2) NP_001269441.1:n.103+288T>C
NM_001352300.1:c.103+288T>C (TXNRD2) NP_001339229.1:n.103+288T>C
NR_147957.1:n.292+288T>C (TXNRD2)
NM_006440.5:c.103+288T>C (TXNRD2) MANE Select NP_006431.2:n.103+288T>C
NM_001282512.3:c.103+288T>C (TXNRD2) NP_001269441.1:n.103+288T>C
NM_001352300.2:c.103+288T>C (TXNRD2) NP_001339229.1:n.103+288T>C
NR_147957.2:n.118+288T>C (TXNRD2)