Canonical Allele Identifier: CA914675022

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1569070954
• gnomAD v2: 22-19868078-C-T
• gnomAD v3: 22-19880555-C-T
• gnomAD v4: 22-19880555-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880555C>T , CM000684.2:g.19880555C>T	GRCh38
NC_000022.10:g.19868078C>T , CM000684.1:g.19868078C>T	GRCh37
NC_000022.9:g.18248078C>T	NCBI36
NG_011835.1:g.66282G>A , LRG_417:g.66282G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1182+67G>A MANE Select	ENSP00000383365.1:n.1182+67G>A
ENST00000400518.5:c.1092+67G>A	ENSP00000383362.1:n.1092+67G>A
ENST00000400519.6:c.1179+67G>A	ENSP00000383363.1:n.1179+67G>A
ENST00000400521.6:c.1182+67G>A	ENSP00000383365.1:n.1182+67G>A
ENST00000400525.6:c.1113+67G>A	ENSP00000383369.3:n.1113+67G>A
ENST00000462330.5:c.105+67G>A	ENSP00000485603.2:n.105+67G>A
ENST00000462843.2:c.132+67G>A	ENSP00000485466.2:n.132+67G>A
ENST00000474308.5:c.1125+67G>A	ENSP00000485665.1:n.1125+67G>A
ENST00000485358.5:c.150+67G>A	ENSP00000485499.2:n.150+67G>A
ENST00000487165.5:n.1276+67G>A
ENST00000494454.5:n.1256+67G>A
ENST00000495655.2:n.726+67G>A
ENST00000542719.6:c.894+67G>A	ENSP00000485128.2:n.894+67G>A
ENST00000634471.1:n.244-284G>A
ENST00000634537.1:c.411+67G>A	ENSP00000489208.1:n.411+67G>A
NM_006440.4:c.1182+67G>A	NP_006431.2:n.1182+67G>A
NM_001352300.1:c.1179+67G>A	NP_001339229.1:n.1179+67G>A
NM_001352301.1:c.1092+67G>A	NP_001339230.1:n.1092+67G>A
NM_001352302.1:c.894+67G>A	NP_001339231.1:n.894+67G>A
NR_147957.1:n.1314+67G>A
NM_006440.5:c.1182+67G>A MANE Select	NP_006431.2:n.1182+67G>A
NM_001352300.2:c.1179+67G>A	NP_001339229.1:n.1179+67G>A
NR_147957.2:n.1140+67G>A
NM_001352301.2:c.1092+67G>A	NP_001339230.1:n.1092+67G>A
NM_001352302.2:c.894+67G>A	NP_001339231.1:n.894+67G>A