Canonical Allele Identifier: CA1024152352

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1938721174
• gnomAD v3: 22-19880546-G-A
• gnomAD v4: 22-19880546-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880546G>A , CM000684.2:g.19880546G>A	GRCh38
NC_000022.10:g.19868069G>A , CM000684.1:g.19868069G>A	GRCh37
NC_000022.9:g.18248069G>A	NCBI36
NG_011835.1:g.66291C>T , LRG_417:g.66291C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1182+76C>T MANE Select	ENSP00000383365.1:n.1182+76C>T
ENST00000400518.5:c.1092+76C>T	ENSP00000383362.1:n.1092+76C>T
ENST00000400519.6:c.1179+76C>T	ENSP00000383363.1:n.1179+76C>T
ENST00000400521.6:c.1182+76C>T	ENSP00000383365.1:n.1182+76C>T
ENST00000400525.6:c.1113+76C>T	ENSP00000383369.3:n.1113+76C>T
ENST00000462330.5:c.105+76C>T	ENSP00000485603.2:n.105+76C>T
ENST00000462843.2:c.132+76C>T	ENSP00000485466.2:n.132+76C>T
ENST00000474308.5:c.1125+76C>T	ENSP00000485665.1:n.1125+76C>T
ENST00000485358.5:c.150+76C>T	ENSP00000485499.2:n.150+76C>T
ENST00000487165.5:n.1276+76C>T
ENST00000494454.5:n.1256+76C>T
ENST00000495655.2:n.726+76C>T
ENST00000542719.6:c.894+76C>T	ENSP00000485128.2:n.894+76C>T
ENST00000634471.1:n.244-275C>T
ENST00000634537.1:c.411+76C>T	ENSP00000489208.1:n.411+76C>T
NM_006440.4:c.1182+76C>T	NP_006431.2:n.1182+76C>T
NM_001352300.1:c.1179+76C>T	NP_001339229.1:n.1179+76C>T
NM_001352301.1:c.1092+76C>T	NP_001339230.1:n.1092+76C>T
NM_001352302.1:c.894+76C>T	NP_001339231.1:n.894+76C>T
NR_147957.1:n.1314+76C>T
NM_006440.5:c.1182+76C>T MANE Select	NP_006431.2:n.1182+76C>T
NM_001352300.2:c.1179+76C>T	NP_001339229.1:n.1179+76C>T
NR_147957.2:n.1140+76C>T
NM_001352301.2:c.1092+76C>T	NP_001339230.1:n.1092+76C>T
NM_001352302.2:c.894+76C>T	NP_001339231.1:n.894+76C>T