Canonical Allele Identifier: CA7266237
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468360
ClinVar RCV Id: RCV000554268
dbSNP Id: rs542328201
ExAC: 14:74706330 G / C
gnomAD v2: 14-74706330-G-C
gnomAD v3: 14-74239627-G-C
gnomAD v4: 14-74239627-G-C
MyVariant Identifiers: chr14:g.74706330G>C (hg19) chr14:g.74239627G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74239627G>C , CM000676.2:g.74239627G>C GRCh38
NC_000014.8:g.74706330G>C , CM000676.1:g.74706330G>C GRCh37
NC_000014.7:g.73776083G>C NCBI36
NG_013092.1:g.5156G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.66G>C MANE Select ENSP00000261980.2:p.Ser22=
ENST00000261980.2:c.66G>C ENSP00000261980.2:p.Ser22=
NM_182894.2:c.66G>C NP_878314.1:p.Ser22=
XM_011536719.1:c.66G>C XP_011535021.1:p.Ser22=
NM_182894.3:c.66G>C MANE Select NP_878314.1:p.Ser22=
Search 100 bp 5'
Search 100 bp 3'