Canonical Allele Identifier: CA7266392
Gene: VSX2 HGNC NCBI

Linked Data

dbSNP Id: rs779674861
ExAC: 14:74726320 C / T
gnomAD v2: 14-74726320-C-T
gnomAD v3: 14-74259617-C-T
gnomAD v4: 14-74259617-C-T
COSMIC: COSM5564898
MyVariant Identifiers: chr14:g.74726320C>T (hg19) chr14:g.74259617C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259617C>T , CM000676.2:g.74259617C>T GRCh38
NC_000014.8:g.74726320C>T , CM000676.1:g.74726320C>T GRCh37
NC_000014.7:g.73796073C>T NCBI36
NG_013092.1:g.25146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.595C>T MANE Select ENSP00000261980.2:p.Arg199Cys
ENST00000261980.2:c.595C>T ENSP00000261980.2:p.Arg199Cys
NM_182894.2:c.595C>T NP_878314.1:p.Arg199Cys
XM_011536719.1:c.595C>T XP_011535021.1:p.Arg199Cys
NM_182894.3:c.595C>T MANE Select NP_878314.1:p.Arg199Cys
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