Canonical Allele Identifier: CA263556667
Gene: VSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1055109142
gnomAD v3: 14-74259762-C-T
gnomAD v4: 14-74259762-C-T
MyVariant Identifiers: chr14:g.74726465C>T (hg19) chr14:g.74259762C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259762C>T , CM000676.2:g.74259762C>T GRCh38
NC_000014.8:g.74726465C>T , CM000676.1:g.74726465C>T GRCh37
NC_000014.7:g.73796218C>T NCBI36
NG_013092.1:g.25291C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.740C>T MANE Select ENSP00000261980.2:p.Ser247Phe
ENST00000261980.2:c.740C>T ENSP00000261980.2:p.Ser247Phe
NM_182894.2:c.740C>T NP_878314.1:p.Ser247Phe
XM_011536719.1:c.740C>T XP_011535021.1:p.Ser247Phe
NM_182894.3:c.740C>T MANE Select NP_878314.1:p.Ser247Phe
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