Canonical Allele Identifier: CA410682000

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19868208C>G (hg19) ; chr22:g.19880685C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880685C>G , CM000684.2:g.19880685C>G	GRCh38
NC_000022.10:g.19868208C>G , CM000684.1:g.19868208C>G	GRCh37
NC_000022.9:g.18248208C>G	NCBI36
NG_011835.1:g.66152G>C , LRG_417:g.66152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1119G>C MANE Select	ENSP00000383365.1:p.Met373Ile
ENST00000400518.5:c.1029G>C	ENSP00000383362.1:p.Met343Ile
ENST00000400519.6:c.1116G>C	ENSP00000383363.1:p.Met372Ile
ENST00000400521.6:c.1119G>C	ENSP00000383365.1:p.Met373Ile
ENST00000400525.6:c.1050G>C	ENSP00000383369.3:p.Met350Ile
ENST00000462330.5:c.42G>C	ENSP00000485603.2:p.Met14Ile
ENST00000462843.2:c.69G>C	ENSP00000485466.2:p.Met23Ile
ENST00000474308.5:c.1062G>C	ENSP00000485665.1:p.Met354Ile
ENST00000485358.5:c.87G>C	ENSP00000485499.2:p.Met29Ile
ENST00000487165.5:n.1213G>C
ENST00000494454.5:n.1193G>C
ENST00000495655.2:n.663G>C
ENST00000542719.6:c.831G>C	ENSP00000485128.2:p.Met277Ile
ENST00000634471.1:n.244-414G>C
ENST00000634537.1:c.348G>C	ENSP00000489208.1:p.Met116Ile
NM_006440.4:c.1119G>C	NP_006431.2:p.Met373Ile
NM_001352300.1:c.1116G>C	NP_001339229.1:p.Met372Ile
NM_001352301.1:c.1029G>C	NP_001339230.1:p.Met343Ile
NM_001352302.1:c.831G>C	NP_001339231.1:p.Met277Ile
NR_147957.1:n.1251G>C
NM_006440.5:c.1119G>C MANE Select	NP_006431.2:p.Met373Ile
NM_001352300.2:c.1116G>C	NP_001339229.1:p.Met372Ile
NR_147957.2:n.1077G>C
NM_001352301.2:c.1029G>C	NP_001339230.1:p.Met343Ile
NM_001352302.2:c.831G>C	NP_001339231.1:p.Met277Ile