Canonical Allele Identifier: CA7266396
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1660265
ClinVar RCV Id: RCV002183592
dbSNP Id: rs536048201
ExAC: 14:74726325 A / C
gnomAD v2: 14-74726325-A-C
gnomAD v3: 14-74259622-A-C
gnomAD v4: 14-74259622-A-C
MyVariant Identifiers: chr14:g.74726325A>C (hg19) chr14:g.74259622A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.600A>C MANE Select ENSP00000261980.2:p.Arg200=
ENST00000261980.2:c.600A>C ENSP00000261980.2:p.Arg200=
NM_182894.2:c.600A>C NP_878314.1:p.Arg200=
XM_011536719.1:c.600A>C XP_011535021.1:p.Arg200=
NM_182894.3:c.600A>C MANE Select NP_878314.1:p.Arg200=
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Search 100 bp 3'