Canonical Allele Identifier: CA322092269

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1003552212
• gnomAD v2: 22-19868051-GAC-G
• gnomAD v3: 22-19880528-GAC-G
• gnomAD v4: 22-19880528-GAC-G
• MyVariant Identifiers: chr22:g.19868052_19868053del (hg19) ; chr22:g.19880529_19880530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880534_19880535del , CM000684.2:g.19880534_19880535del	GRCh38
NC_000022.10:g.19868057_19868058del , CM000684.1:g.19868057_19868058del	GRCh37
NC_000022.9:g.18248057_18248058del	NCBI36
NG_011835.1:g.66307_66308del , LRG_417:g.66307_66308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1182+92_1182+93del MANE Select	ENSP00000383365.1:n.1182+92_1182+93del
ENST00000400518.5:c.1092+92_1092+93del	ENSP00000383362.1:n.1092+92_1092+93del
ENST00000400519.6:c.1179+92_1179+93del	ENSP00000383363.1:n.1179+92_1179+93del
ENST00000400521.6:c.1182+92_1182+93del	ENSP00000383365.1:n.1182+92_1182+93del
ENST00000400525.6:c.1113+92_1113+93del	ENSP00000383369.3:n.1113+92_1113+93del
ENST00000462330.5:c.105+92_105+93del	ENSP00000485603.2:n.105+92_105+93del
ENST00000462843.2:c.132+92_132+93del	ENSP00000485466.2:n.132+92_132+93del
ENST00000474308.5:c.1125+92_1125+93del	ENSP00000485665.1:n.1125+92_1125+93del
ENST00000485358.5:c.150+92_150+93del	ENSP00000485499.2:n.150+92_150+93del
ENST00000487165.5:n.1276+92_1276+93del
ENST00000494454.5:n.1256+92_1256+93del
ENST00000495655.2:n.726+92_726+93del
ENST00000542719.6:c.894+92_894+93del	ENSP00000485128.2:n.894+92_894+93del
ENST00000634471.1:n.244-259_244-258del
ENST00000634537.1:c.411+92_411+93del	ENSP00000489208.1:n.411+92_411+93del
NM_006440.4:c.1182+92_1182+93del	NP_006431.2:n.1182+92_1182+93del
NM_001352300.1:c.1179+92_1179+93del	NP_001339229.1:n.1179+92_1179+93del
NM_001352301.1:c.1092+92_1092+93del	NP_001339230.1:n.1092+92_1092+93del
NM_001352302.1:c.894+92_894+93del	NP_001339231.1:n.894+92_894+93del
NR_147957.1:n.1314+92_1314+93del
NM_006440.5:c.1182+92_1182+93del MANE Select	NP_006431.2:n.1182+92_1182+93del
NM_001352300.2:c.1179+92_1179+93del	NP_001339229.1:n.1179+92_1179+93del
NR_147957.2:n.1140+92_1140+93del
NM_001352301.2:c.1092+92_1092+93del	NP_001339230.1:n.1092+92_1092+93del
NM_001352302.2:c.894+92_894+93del	NP_001339231.1:n.894+92_894+93del