Canonical Allele Identifier: CA410694064

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1360401688
• gnomAD v4: 22-19918990-G-A
• MyVariant Identifiers: chr22:g.19906513G>A (hg19) ; chr22:g.19918990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918990G>A , CM000684.2:g.19918990G>A	GRCh38
NC_000022.10:g.19906513G>A , CM000684.1:g.19906513G>A	GRCh37
NC_000022.9:g.18286513G>A	NCBI36
NG_011835.1:g.27847C>T , LRG_417:g.27847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.244C>T MANE Select	ENSP00000383365.1:p.Leu82Phe
ENST00000334363.14:c.244C>T	ENSP00000334451.9:p.Leu82Phe
ENST00000400518.5:c.154C>T	ENSP00000383362.1:p.Leu52Phe
ENST00000400519.6:c.241C>T	ENSP00000383363.1:p.Leu81Phe
ENST00000400521.6:c.244C>T	ENSP00000383365.1:p.Leu82Phe
ENST00000400525.6:c.175C>T	ENSP00000383369.3:p.Leu59Phe
ENST00000474308.5:c.187C>T	ENSP00000485665.1:p.Leu63Phe
ENST00000491939.6:c.148C>T	ENSP00000485543.1:p.Leu50Phe
ENST00000496729.2:n.249C>T
ENST00000542719.6:c.-45C>T	ENSP00000485128.2:n.-45C>T
NM_001282512.1:c.244C>T	NP_001269441.1:p.Leu82Phe
NM_006440.4:c.244C>T	NP_006431.2:p.Leu82Phe
NM_001282512.2:c.244C>T	NP_001269441.1:p.Leu82Phe
NM_001352300.1:c.241C>T	NP_001339229.1:p.Leu81Phe
NM_001352301.1:c.154C>T	NP_001339230.1:p.Leu52Phe
NM_001352302.1:c.-45C>T	NP_001339231.1:n.-45C>T
NM_001352303.1:c.148C>T	NP_001339232.1:p.Leu50Phe
NR_147957.1:n.376C>T
NM_006440.5:c.244C>T MANE Select	NP_006431.2:p.Leu82Phe
NM_001282512.3:c.244C>T	NP_001269441.1:p.Leu82Phe
NM_001352300.2:c.241C>T	NP_001339229.1:p.Leu81Phe
NR_147957.2:n.202C>T
NM_001352301.2:c.154C>T	NP_001339230.1:p.Leu52Phe
NM_001352302.2:c.-45C>T	NP_001339231.1:n.-45C>T
NM_001352303.2:c.148C>T	NP_001339232.1:p.Leu50Phe