Canonical Allele Identifier: CA10646011
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314212
ClinVar RCV Id: RCV000307443 RCV000364917 RCV001690043
dbSNP Id: rs73309254
gnomAD v2: 14-74728077-C-T
gnomAD v3: 14-74261374-C-T
gnomAD v4: 14-74261374-C-T
MyVariant Identifiers: chr14:g.74728077C>T (hg19) chr14:g.74261374C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74261374C>T , CM000676.2:g.74261374C>T GRCh38
NC_000014.8:g.74728077C>T , CM000676.1:g.74728077C>T GRCh37
NC_000014.7:g.73797830C>T NCBI36
NG_013092.1:g.26903C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.*455C>T MANE Select ENSP00000261980.2:n.*455C>T
ENST00000261980.2:c.*455C>T ENSP00000261980.2:n.*455C>T
NM_182894.2:c.*455C>T NP_878314.1:n.*455C>T
XM_011536719.1:c.1598C>T XP_011535021.1:n.1598C>T
NM_182894.3:c.*455C>T MANE Select NP_878314.1:n.*455C>T
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