Canonical Allele Identifier: CA390369241
Gene: VSX2 HGNC NCBI

Linked Data

dbSNP Id: rs368725719
gnomAD v2: 14-74726360-G-A
gnomAD v4: 14-74259657-G-A
COSMIC: COSM5054095
MyVariant Identifiers: chr14:g.74726360G>A (hg19) chr14:g.74259657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259657G>A , CM000676.2:g.74259657G>A GRCh38
NC_000014.8:g.74726360G>A , CM000676.1:g.74726360G>A GRCh37
NC_000014.7:g.73796113G>A NCBI36
NG_013092.1:g.25186G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.635G>A MANE Select ENSP00000261980.2:p.Arg212Gln
ENST00000261980.2:c.635G>A ENSP00000261980.2:p.Arg212Gln
NM_182894.2:c.635G>A NP_878314.1:p.Arg212Gln
XM_011536719.1:c.635G>A XP_011535021.1:p.Arg212Gln
NM_182894.3:c.635G>A MANE Select NP_878314.1:p.Arg212Gln
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