Canonical Allele Identifier: CA7266405
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1437120
ClinVar RCV Id: RCV001946535
dbSNP Id: rs139224826
ExAC: 14:74726379 G / T
gnomAD v2: 14-74726379-G-T
gnomAD v3: 14-74259676-G-T
gnomAD v4: 14-74259676-G-T
MyVariant Identifiers: chr14:g.74726379G>T (hg19) chr14:g.74259676G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259676G>T , CM000676.2:g.74259676G>T GRCh38
NC_000014.8:g.74726379G>T , CM000676.1:g.74726379G>T GRCh37
NC_000014.7:g.73796132G>T NCBI36
NG_013092.1:g.25205G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.654G>T MANE Select ENSP00000261980.2:p.Glu218Asp
ENST00000261980.2:c.654G>T ENSP00000261980.2:p.Glu218Asp
NM_182894.2:c.654G>T NP_878314.1:p.Glu218Asp
XM_011536719.1:c.654G>T XP_011535021.1:p.Glu218Asp
NM_182894.3:c.654G>T MANE Select NP_878314.1:p.Glu218Asp
Search 100 bp 5'
Search 100 bp 3'