Canonical Allele Identifier: CA10644848
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314221
ClinVar RCV Id: RCV000396422 RCV001690044 RCV000366501
dbSNP Id: rs8020424
gnomAD v2: 14-74728924-G-A
gnomAD v3: 14-74262221-G-A
gnomAD v4: 14-74262221-G-A
MyVariant Identifiers: chr14:g.74728924G>A (hg19) chr14:g.74262221G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74262221G>A , CM000676.2:g.74262221G>A GRCh38
NC_000014.8:g.74728924G>A , CM000676.1:g.74728924G>A GRCh37
NC_000014.7:g.73798677G>A NCBI36
NG_013092.1:g.27750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.*1302G>A MANE Select ENSP00000261980.2:n.*1302G>A
ENST00000261980.2:c.*1302G>A ENSP00000261980.2:n.*1302G>A
NM_182894.2:c.*1302G>A NP_878314.1:n.*1302G>A
XM_011536719.1:c.2445G>A XP_011535021.1:n.2445G>A
NM_182894.3:c.*1302G>A MANE Select NP_878314.1:n.*1302G>A
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