Canonical Allele Identifier: CA7266432
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2762635
ClinVar RCV Id: RCV003517621
dbSNP Id: rs376798137
ExAC: 14:74726497 C / T
gnomAD v2: 14-74726497-C-T
gnomAD v3: 14-74259794-C-T
gnomAD v4: 14-74259794-C-T
MyVariant Identifiers: chr14:g.74726497C>T (hg19) chr14:g.74259794C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259794C>T , CM000676.2:g.74259794C>T GRCh38
NC_000014.8:g.74726497C>T , CM000676.1:g.74726497C>T GRCh37
NC_000014.7:g.73796250C>T NCBI36
NG_013092.1:g.25323C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.760+12C>T MANE Select ENSP00000261980.2:n.760+12C>T
ENST00000261980.2:c.760+12C>T ENSP00000261980.2:n.760+12C>T
NM_182894.2:c.760+12C>T NP_878314.1:n.760+12C>T
XM_011536719.1:c.760+12C>T XP_011535021.1:n.760+12C>T
NM_182894.3:c.760+12C>T MANE Select NP_878314.1:n.760+12C>T
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