Canonical Allele Identifier: CA2499222720
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1161813
ClinVar RCV Id: RCV001506465
dbSNP Id: rs2139645813

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259595C>T , CM000676.2:g.74259595C>T GRCh38
NC_000014.8:g.74726298C>T , CM000676.1:g.74726298C>T GRCh37
NC_000014.7:g.73796051C>T NCBI36
NG_013092.1:g.25124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.580-7C>T MANE Select ENSP00000261980.2:n.580-7C>T
ENST00000261980.2:c.580-7C>T ENSP00000261980.2:n.580-7C>T
NM_182894.2:c.580-7C>T NP_878314.1:n.580-7C>T
XM_011536719.1:c.580-7C>T XP_011535021.1:n.580-7C>T
NM_182894.3:c.580-7C>T MANE Select NP_878314.1:n.580-7C>T