Canonical Allele Identifier: CA124413

Gene: VSX2

Linked Data

• ClinVar Variation Id: 14861
• ClinVar RCV Id: RCV000015986 ; RCV000015987 ; RCV000413928 ; RCV001330573
• dbSNP Id: rs121912543
• gnomAD v4: 14-74259621-G-C
• MyVariant Identifiers: chr14:g.74726324G>C (hg19) ; chr14:g.74259621G>C (hg38)
• PubMed: PMID:11341888 ; PMID:17661825

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74259621G>C , CM000676.2:g.74259621G>C	GRCh38
NC_000014.8:g.74726324G>C , CM000676.1:g.74726324G>C	GRCh37
NC_000014.7:g.73796077G>C	NCBI36
NG_013092.1:g.25150G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261980.3:c.599G>C MANE Select	ENSP00000261980.2:p.Arg200Pro
ENST00000261980.2:c.599G>C	ENSP00000261980.2:p.Arg200Pro
NM_182894.2:c.599G>C	NP_878314.1:p.Arg200Pro
XM_011536719.1:c.599G>C	XP_011535021.1:p.Arg200Pro
NM_182894.3:c.599G>C MANE Select	NP_878314.1:p.Arg200Pro