Canonical Allele Identifier: CA487155859
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2888710
ClinVar RCV Id: RCV003628998
gnomAD v4: 14-74259664-T-C
MyVariant Identifiers: chr14:g.74726367T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259664T>C , CM000676.2:g.74259664T>C GRCh38
NC_000014.8:g.74726367T>C , CM000676.1:g.74726367T>C GRCh37
NC_000014.7:g.73796120T>C NCBI36
NG_013092.1:g.25193T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.642T>C MANE Select ENSP00000261980.2:p.Ser214=
ENST00000261980.2:c.642T>C ENSP00000261980.2:p.Ser214=
NM_182894.2:c.642T>C NP_878314.1:p.Ser214=
XM_011536719.1:c.642T>C XP_011535021.1:p.Ser214=
NM_182894.3:c.642T>C MANE Select NP_878314.1:p.Ser214=
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