Canonical Allele Identifier: CA410681905

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19868157C>A (hg19) ; chr22:g.19880634C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880634C>A , CM000684.2:g.19880634C>A	GRCh38
NC_000022.10:g.19868157C>A , CM000684.1:g.19868157C>A	GRCh37
NC_000022.9:g.18248157C>A	NCBI36
NG_011835.1:g.66203G>T , LRG_417:g.66203G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1170G>T MANE Select	ENSP00000383365.1:p.Met390Ile
ENST00000400518.5:c.1080G>T	ENSP00000383362.1:p.Met360Ile
ENST00000400519.6:c.1167G>T	ENSP00000383363.1:p.Met389Ile
ENST00000400521.6:c.1170G>T	ENSP00000383365.1:p.Met390Ile
ENST00000400525.6:c.1101G>T	ENSP00000383369.3:p.Met367Ile
ENST00000462330.5:c.93G>T	ENSP00000485603.2:p.Met31Ile
ENST00000462843.2:c.120G>T	ENSP00000485466.2:p.Met40Ile
ENST00000474308.5:c.1113G>T	ENSP00000485665.1:p.Met371Ile
ENST00000485358.5:c.138G>T	ENSP00000485499.2:p.Met46Ile
ENST00000487165.5:n.1264G>T
ENST00000494454.5:n.1244G>T
ENST00000495655.2:n.714G>T
ENST00000542719.6:c.882G>T	ENSP00000485128.2:p.Met294Ile
ENST00000634471.1:n.244-363G>T
ENST00000634537.1:c.399G>T	ENSP00000489208.1:p.Met133Ile
NM_006440.4:c.1170G>T	NP_006431.2:p.Met390Ile
NM_001352300.1:c.1167G>T	NP_001339229.1:p.Met389Ile
NM_001352301.1:c.1080G>T	NP_001339230.1:p.Met360Ile
NM_001352302.1:c.882G>T	NP_001339231.1:p.Met294Ile
NR_147957.1:n.1302G>T
NM_006440.5:c.1170G>T MANE Select	NP_006431.2:p.Met390Ile
NM_001352300.2:c.1167G>T	NP_001339229.1:p.Met389Ile
NR_147957.2:n.1128G>T
NM_001352301.2:c.1080G>T	NP_001339230.1:p.Met360Ile
NM_001352302.2:c.882G>T	NP_001339231.1:p.Met294Ile