Canonical Allele Identifier: CA10640898
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314215
ClinVar RCV Id: RCV000333419 RCV000371788
dbSNP Id: rs886050740
gnomAD v2: 14-74728397-A-G
gnomAD v3: 14-74261694-A-G
gnomAD v4: 14-74261694-A-G
MyVariant Identifiers: chr14:g.74728397A>G (hg19) chr14:g.74261694A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74261694A>G , CM000676.2:g.74261694A>G GRCh38
NC_000014.8:g.74728397A>G , CM000676.1:g.74728397A>G GRCh37
NC_000014.7:g.73798150A>G NCBI36
NG_013092.1:g.27223A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.*775A>G MANE Select ENSP00000261980.2:n.*775A>G
ENST00000261980.2:c.*775A>G ENSP00000261980.2:n.*775A>G
NM_182894.2:c.*775A>G NP_878314.1:n.*775A>G
XM_011536719.1:c.1918A>G XP_011535021.1:n.1918A>G
NM_182894.3:c.*775A>G MANE Select NP_878314.1:n.*775A>G
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