Canonical Allele Identifier: CA10210819
Gene: TXN2 HGNC NCBI
COSMIC:
COSN15321900 (not active)
MyVariant.info:
GRCh38 chr22:g.36476703T>G
GRCh37 chr22:g.36872750T>G
gnomAD v2:
22:36872750 T / G
gnomAD v3:
22:36476703 T / G
gnomAD v4:
chr22-36476703-T-G
Joint Max Group AF 0.81089464 (NFE)
Genomes Max Group AF 0.80687822 (NFE)
Exomes Max Group AF 0.81083532 (NFE)
ClinVar RCV:
RCV001688688
RCV002243424
ClinVar Variation:
1280669
dbSNP:
2281082
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36476703T>G , CM000684.2:g.36476703T>G GRCh38
NC_000022.10:g.36872750T>G , CM000684.1:g.36872750T>G GRCh37
NC_000022.9:g.35202696T>G NCBI36
NG_046718.1:g.9938A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216185.7:c.387+30A>C MANE Select ENSP00000216185.2:n.387+30A>C
ENST00000216185.6:c.387+30A>C ENSP00000216185.2:n.387+30A>C
ENST00000403313.5:c.387+30A>C ENSP00000385393.1:n.387+30A>C
ENST00000411915.1:c.387+30A>C ENSP00000409407.1:n.387+30A>C
ENST00000416967.1:c.81+30A>C ENSP00000469160.1:n.81+30A>C
ENST00000487725.1:n.367+30A>C
NM_012473.3:c.387+30A>C NP_036605.2:n.387+30A>C
XM_005261508.1:c.480+30A>C XP_005261565.1:n.480+30A>C
XM_006724226.1:c.387+30A>C XP_006724289.1:n.387+30A>C
XM_011530111.1:c.356+3872A>C XP_011528413.1:n.356+3872A>C
XM_011530111.3:c.356+3872A>C XP_011528413.1:n.356+3872A>C
NM_012473.4:c.387+30A>C MANE Select NP_036605.2:n.387+30A>C
Search 100 bp 5'
Search 100 bp 3'