Canonical Allele Identifier: CA322111528

Linked Data

dbSNP Id: rs45559342

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19941423G>C , CM000684.2:g.19941423G>C GRCh38
NC_000022.10:g.19928946G>C , CM000684.1:g.19928946G>C GRCh37
NC_000022.9:g.18308946G>C NCBI36
NG_011526.1:g.4684G>C
NG_011835.1:g.5414C>G , LRG_417:g.5414C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.103+278C>G (TXNRD2) MANE Select ENSP00000383365.1:n.103+278C>G
ENST00000676678.1:c.-244G>C (COMT) ENSP00000503719.1:n.-244G>C
ENST00000334363.14:c.103+278C>G (TXNRD2) ENSP00000334451.9:n.103+278C>G
ENST00000400519.6:c.103+278C>G (TXNRD2) ENSP00000383363.1:n.103+278C>G
ENST00000400521.6:c.103+278C>G (TXNRD2) ENSP00000383365.1:n.103+278C>G
ENST00000400525.6:c.103+278C>G (TXNRD2) ENSP00000383369.3:n.103+278C>G
ENST00000474308.5:c.103+278C>G (TXNRD2) ENSP00000485665.1:n.103+278C>G
ENST00000496729.2:n.108+278C>G (TXNRD2)
NM_001282512.1:c.103+278C>G (TXNRD2) NP_001269441.1:n.103+278C>G
NM_006440.4:c.103+278C>G (TXNRD2) NP_006431.2:n.103+278C>G
NM_001282512.2:c.103+278C>G (TXNRD2) NP_001269441.1:n.103+278C>G
NM_001352300.1:c.103+278C>G (TXNRD2) NP_001339229.1:n.103+278C>G
NR_147957.1:n.292+278C>G (TXNRD2)
NM_006440.5:c.103+278C>G (TXNRD2) MANE Select NP_006431.2:n.103+278C>G
NM_001282512.3:c.103+278C>G (TXNRD2) NP_001269441.1:n.103+278C>G
NM_001352300.2:c.103+278C>G (TXNRD2) NP_001339229.1:n.103+278C>G
NR_147957.2:n.118+278C>G (TXNRD2)