Canonical Allele Identifier: CA2655330950

Gene: TXNRD2 COMT

Linked Data

• gnomAD v4: 22-19941526-TGTGGCTAGAAGCAGCCCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19941527_19941545del , CM000684.2:g.19941527_19941545del	GRCh38
NC_000022.10:g.19929050_19929068del , CM000684.1:g.19929050_19929068del	GRCh37
NC_000022.9:g.18309050_18309068del	NCBI36
NG_011526.1:g.4788_4806del
NG_011835.1:g.5292_5310del , LRG_417:g.5292_5310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.103+156_103+174del (TXNRD2) MANE Select	ENSP00000383365.1:n.103+156_103+174del
ENST00000676678.1:c.-140_-122del (COMT)	ENSP00000503719.1:n.-140_-122del
ENST00000334363.14:c.103+156_103+174del (TXNRD2)	ENSP00000334451.9:n.103+156_103+174del
ENST00000400519.6:c.103+156_103+174del (TXNRD2)	ENSP00000383363.1:n.103+156_103+174del
ENST00000400521.6:c.103+156_103+174del (TXNRD2)	ENSP00000383365.1:n.103+156_103+174del
ENST00000400525.6:c.103+156_103+174del (TXNRD2)	ENSP00000383369.3:n.103+156_103+174del
ENST00000474308.5:c.103+156_103+174del (TXNRD2)	ENSP00000485665.1:n.103+156_103+174del
ENST00000496729.2:n.108+156_108+174del (TXNRD2)
NM_001282512.1:c.103+156_103+174del (TXNRD2)	NP_001269441.1:n.103+156_103+174del
NM_006440.4:c.103+156_103+174del (TXNRD2)	NP_006431.2:n.103+156_103+174del
NM_001282512.2:c.103+156_103+174del (TXNRD2)	NP_001269441.1:n.103+156_103+174del
NM_001352300.1:c.103+156_103+174del (TXNRD2)	NP_001339229.1:n.103+156_103+174del
NR_147957.1:n.292+156_292+174del (TXNRD2)
NM_006440.5:c.103+156_103+174del (TXNRD2) MANE Select	NP_006431.2:n.103+156_103+174del
NM_001282512.3:c.103+156_103+174del (TXNRD2)	NP_001269441.1:n.103+156_103+174del
NM_001352300.2:c.103+156_103+174del (TXNRD2)	NP_001339229.1:n.103+156_103+174del
NR_147957.2:n.118+156_118+174del (TXNRD2)