Canonical Allele Identifier: CA513361612

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 2885736
• ClinVar RCV Id: RCV003619486
• dbSNP Id: rs1220349719
• gnomAD v2: 22-19868154-G-A
• gnomAD v4: 22-19880631-G-A
• MyVariant Identifiers: chr22:g.19868154G>A (hg19) ; chr22:g.19880631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880631G>A , CM000684.2:g.19880631G>A	GRCh38
NC_000022.10:g.19868154G>A , CM000684.1:g.19868154G>A	GRCh37
NC_000022.9:g.18248154G>A	NCBI36
NG_011835.1:g.66206C>T , LRG_417:g.66206C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1173C>T MANE Select	ENSP00000383365.1:p.Asp391=
ENST00000400518.5:c.1083C>T	ENSP00000383362.1:p.Asp361=
ENST00000400519.6:c.1170C>T	ENSP00000383363.1:p.Asp390=
ENST00000400521.6:c.1173C>T	ENSP00000383365.1:p.Asp391=
ENST00000400525.6:c.1104C>T	ENSP00000383369.3:p.Asp368=
ENST00000462330.5:c.96C>T	ENSP00000485603.2:p.Asp32=
ENST00000462843.2:c.123C>T	ENSP00000485466.2:p.Asp41=
ENST00000474308.5:c.1116C>T	ENSP00000485665.1:p.Asp372=
ENST00000485358.5:c.141C>T	ENSP00000485499.2:p.Asp47=
ENST00000487165.5:n.1267C>T
ENST00000494454.5:n.1247C>T
ENST00000495655.2:n.717C>T
ENST00000542719.6:c.885C>T	ENSP00000485128.2:p.Asp295=
ENST00000634471.1:n.244-360C>T
ENST00000634537.1:c.402C>T	ENSP00000489208.1:p.Asp134=
NM_006440.4:c.1173C>T	NP_006431.2:p.Asp391=
NM_001352300.1:c.1170C>T	NP_001339229.1:p.Asp390=
NM_001352301.1:c.1083C>T	NP_001339230.1:p.Asp361=
NM_001352302.1:c.885C>T	NP_001339231.1:p.Asp295=
NR_147957.1:n.1305C>T
NM_006440.5:c.1173C>T MANE Select	NP_006431.2:p.Asp391=
NM_001352300.2:c.1170C>T	NP_001339229.1:p.Asp390=
NR_147957.2:n.1131C>T
NM_001352301.2:c.1083C>T	NP_001339230.1:p.Asp361=
NM_001352302.2:c.885C>T	NP_001339231.1:p.Asp295=