Canonical Allele Identifier: CA2396114986

Gene: TXNRD2 COMT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19941377_19941378delinsTG , CM000684.2:g.19941377_19941378delinsTG	GRCh38
NC_000022.10:g.19928900_19928901delinsTG , CM000684.1:g.19928900_19928901delinsTG	GRCh37
NC_000022.9:g.18308900_18308901delinsTG	NCBI36
NG_011526.1:g.4638_4639delinsTG
NG_011835.1:g.5459_5460delinsCA , LRG_417:g.5459_5460delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.103+323_103+324delinsCA (TXNRD2) MANE Select	ENSP00000383365.1:n.103+323_103+324delinsCA
ENST00000676678.1:c.-290_-289delinsTG (COMT)	ENSP00000503719.1:n.-290_-289delinsTG
ENST00000334363.14:c.103+323_103+324delinsCA (TXNRD2)	ENSP00000334451.9:n.103+323_103+324delinsCA
ENST00000400519.6:c.103+323_103+324delinsCA (TXNRD2)	ENSP00000383363.1:n.103+323_103+324delinsCA
ENST00000400521.6:c.103+323_103+324delinsCA (TXNRD2)	ENSP00000383365.1:n.103+323_103+324delinsCA
ENST00000400525.6:c.103+323_103+324delinsCA (TXNRD2)	ENSP00000383369.3:n.103+323_103+324delinsCA
ENST00000474308.5:c.103+323_103+324delinsCA (TXNRD2)	ENSP00000485665.1:n.103+323_103+324delinsCA
ENST00000496729.2:n.108+323_108+324delinsCA (TXNRD2)
NM_001282512.1:c.103+323_103+324delinsCA (TXNRD2)	NP_001269441.1:n.103+323_103+324delinsCA
NM_006440.4:c.103+323_103+324delinsCA (TXNRD2)	NP_006431.2:n.103+323_103+324delinsCA
NM_001282512.2:c.103+323_103+324delinsCA (TXNRD2)	NP_001269441.1:n.103+323_103+324delinsCA
NM_001352300.1:c.103+323_103+324delinsCA (TXNRD2)	NP_001339229.1:n.103+323_103+324delinsCA
NR_147957.1:n.292+323_292+324delinsCA (TXNRD2)
NM_006440.5:c.103+323_103+324delinsCA (TXNRD2) MANE Select	NP_006431.2:n.103+323_103+324delinsCA
NM_001282512.3:c.103+323_103+324delinsCA (TXNRD2)	NP_001269441.1:n.103+323_103+324delinsCA
NM_001352300.2:c.103+323_103+324delinsCA (TXNRD2)	NP_001339229.1:n.103+323_103+324delinsCA
NR_147957.2:n.118+323_118+324delinsCA (TXNRD2)