Canonical Allele Identifier: CA1024148090

Gene: TXNRD2

Linked Data

• gnomAD v3: 22-19919302-CAAG-C
• gnomAD v4: 22-19919302-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19919303_19919305del , CM000684.2:g.19919303_19919305del	GRCh38
NC_000022.10:g.19906826_19906828del , CM000684.1:g.19906826_19906828del	GRCh37
NC_000022.9:g.18286826_18286828del	NCBI36
NG_011835.1:g.27532_27534del , LRG_417:g.27532_27534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.229+238_229+240del MANE Select	ENSP00000383365.1:n.229+238_229+240del
ENST00000334363.14:c.229+238_229+240del	ENSP00000334451.9:n.229+238_229+240del
ENST00000400518.5:c.139+238_139+240del	ENSP00000383362.1:n.139+238_139+240del
ENST00000400519.6:c.226+238_226+240del	ENSP00000383363.1:n.226+238_226+240del
ENST00000400521.6:c.229+238_229+240del	ENSP00000383365.1:n.229+238_229+240del
ENST00000400525.6:c.160+238_160+240del	ENSP00000383369.3:n.160+238_160+240del
ENST00000474308.5:c.173-301_173-299del	ENSP00000485665.1:n.173-301_173-299del
ENST00000491939.6:c.133+238_133+240del	ENSP00000485543.1:n.133+238_133+240del
ENST00000496729.2:n.234+238_234+240del
ENST00000542719.6:c.-60+238_-60+240del	ENSP00000485128.2:n.-60+238_-60+240del
NM_001282512.1:c.229+238_229+240del	NP_001269441.1:n.229+238_229+240del
NM_006440.4:c.229+238_229+240del	NP_006431.2:n.229+238_229+240del
NM_001282512.2:c.229+238_229+240del	NP_001269441.1:n.229+238_229+240del
NM_001352300.1:c.226+238_226+240del	NP_001339229.1:n.226+238_226+240del
NM_001352301.1:c.139+238_139+240del	NP_001339230.1:n.139+238_139+240del
NM_001352302.1:c.-60+238_-60+240del	NP_001339231.1:n.-60+238_-60+240del
NM_001352303.1:c.133+238_133+240del	NP_001339232.1:n.133+238_133+240del
NR_147957.1:n.362-301_362-299del
NM_006440.5:c.229+238_229+240del MANE Select	NP_006431.2:n.229+238_229+240del
NM_001282512.3:c.229+238_229+240del	NP_001269441.1:n.229+238_229+240del
NM_001352300.2:c.226+238_226+240del	NP_001339229.1:n.226+238_226+240del
NR_147957.2:n.188-301_188-299del
NM_001352301.2:c.139+238_139+240del	NP_001339230.1:n.139+238_139+240del
NM_001352302.2:c.-60+238_-60+240del	NP_001339231.1:n.-60+238_-60+240del
NM_001352303.2:c.133+238_133+240del	NP_001339232.1:n.133+238_133+240del