Canonical Allele Identifier: CA404241868
Community Standard Title: NM_001382241.1(TNPO2):c.1543T>C (p.Tyr515His)
Gene: TNPO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12706321A>G , CM000681.2:g.12706321A>G GRCh38
NC_000019.9:g.12817135A>G , CM000681.1:g.12817135A>G GRCh37
NC_000019.8:g.12678135A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001382241.1:c.1543T>C MANE Select NP_001369170.1:p.Tyr515His
ENST00000425528.6:c.1543T>C MANE Select ENSP00000407182.1:p.Tyr515His
NM_001136195.1:c.1543T>C NP_001129667.1:p.Tyr515His
NM_001136195.2:c.1543T>C NP_001129667.1:p.Tyr515His
NM_001136196.1:c.1543T>C NP_001129668.1:p.Tyr515His
NM_001136196.2:c.1543T>C NP_001129668.1:p.Tyr515His
NM_001382236.1:c.1543T>C NP_001369165.1:p.Tyr515His
NM_001382237.1:c.1543T>C NP_001369166.1:p.Tyr515His
NM_001382238.1:c.1543T>C NP_001369167.1:p.Tyr515His
NM_001382239.1:c.1543T>C NP_001369168.1:p.Tyr515His
NM_001382240.1:c.1543T>C NP_001369169.1:p.Tyr515His
NM_001382242.1:c.1543T>C NP_001369171.1:p.Tyr515His
NM_001382243.1:c.1543T>C NP_001369172.1:p.Tyr515His
NM_013433.4:c.1543T>C NP_038461.2:p.Tyr515His
NM_013433.5:c.1543T>C NP_038461.2:p.Tyr515His
NR_167974.1:n.1682T>C
NR_167975.1:n.1837T>C
NR_167976.1:n.1808T>C
NR_167977.1:n.1808T>C
NR_167978.1:n.1413T>C
NR_167979.1:n.1653T>C
ENST00000356861.9:c.1543T>C ENSP00000349321.4:p.Tyr515His
ENST00000425528.5:c.1543T>C ENSP00000407182.1:p.Tyr515His
ENST00000450764.6:c.1543T>C ENSP00000397379.2:p.Tyr515His
ENST00000585886.5:c.1543T>C ENSP00000468101.1:p.Tyr515His
ENST00000588216.5:c.1543T>C ENSP00000465625.1:p.Tyr515His
ENST00000588491.1:c.152T>C
ENST00000592287.5:c.1543T>C ENSP00000468434.1:p.Tyr515His