Canonical Allele Identifier: CA2580088747
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2434598
ClinVar RCV Id: RCV003134761
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259686dup , CM000676.2:g.74259686dup GRCh38
NC_000014.8:g.74726389dup , CM000676.1:g.74726389dup GRCh37
NC_000014.7:g.73796142dup NCBI36
NG_013092.1:g.25215dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.664dup MANE Select ENSP00000261980.2:p.Tyr222LeufsTer?
ENST00000261980.2:c.664dup ENSP00000261980.2:p.Tyr222LeufsTer?
NM_182894.2:c.664dup NP_878314.1:p.Tyr222LeufsTer?
XM_011536719.1:c.664dup XP_011535021.1:p.Tyr222LeufsTer?
NM_182894.3:c.664dup MANE Select NP_878314.1:p.Tyr222LeufsTer?
Search 100 bp 5'
Search 100 bp 3'