Canonical Allele Identifier: CA10640890
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314189
ClinVar RCV Id: RCV000317090 RCV000374133
dbSNP Id: rs886050734
gnomAD v2: 14-74706197-G-C
gnomAD v3: 14-74239494-G-C
gnomAD v4: 14-74239494-G-C
MyVariant Identifiers: chr14:g.74706197G>C (hg19) chr14:g.74239494G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74239494G>C , CM000676.2:g.74239494G>C GRCh38
NC_000014.8:g.74706197G>C , CM000676.1:g.74706197G>C GRCh37
NC_000014.7:g.73775950G>C NCBI36
NG_013092.1:g.5023G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.-68G>C MANE Select ENSP00000261980.2:n.-68G>C
ENST00000261980.2:c.-68G>C ENSP00000261980.2:n.-68G>C
NM_182894.2:c.-68G>C NP_878314.1:n.-68G>C
NM_182894.3:c.-68G>C MANE Select NP_878314.1:n.-68G>C
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