Canonical Allele Identifier: CA487155818
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1589703
ClinVar RCV Id: RCV002101160
dbSNP Id: rs536048201
gnomAD v3: 14-74259622-A-G
gnomAD v4: 14-74259622-A-G
MyVariant Identifiers: chr14:g.74726325A>G (hg19) chr14:g.74259622A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259622A>G , CM000676.2:g.74259622A>G GRCh38
NC_000014.8:g.74726325A>G , CM000676.1:g.74726325A>G GRCh37
NC_000014.7:g.73796078A>G NCBI36
NG_013092.1:g.25151A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.600A>G MANE Select ENSP00000261980.2:p.Arg200=
ENST00000261980.2:c.600A>G ENSP00000261980.2:p.Arg200=
NM_182894.2:c.600A>G NP_878314.1:p.Arg200=
XM_011536719.1:c.600A>G XP_011535021.1:p.Arg200=
NM_182894.3:c.600A>G MANE Select NP_878314.1:p.Arg200=
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