Canonical Allele Identifier: CA7266423
Gene: VSX2 HGNC NCBI

Linked Data

dbSNP Id: rs767178137
ExAC: 14:74726474 C / G
gnomAD v2: 14-74726474-C-G
gnomAD v4: 14-74259771-C-G
MyVariant Identifiers: chr14:g.74726474C>G (hg19) chr14:g.74259771C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259771C>G , CM000676.2:g.74259771C>G GRCh38
NC_000014.8:g.74726474C>G , CM000676.1:g.74726474C>G GRCh37
NC_000014.7:g.73796227C>G NCBI36
NG_013092.1:g.25300C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.749C>G MANE Select ENSP00000261980.2:p.Pro250Arg
ENST00000261980.2:c.749C>G ENSP00000261980.2:p.Pro250Arg
NM_182894.2:c.749C>G NP_878314.1:p.Pro250Arg
XM_011536719.1:c.749C>G XP_011535021.1:p.Pro250Arg
NM_182894.3:c.749C>G MANE Select NP_878314.1:p.Pro250Arg
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