Canonical Allele Identifier: CA487155990
Gene: VSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1079660
ClinVar RCV Id: RCV001395048
dbSNP Id: rs2139645982
MyVariant Identifiers: chr14:g.74726482C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259779C>T , CM000676.2:g.74259779C>T GRCh38
NC_000014.8:g.74726482C>T , CM000676.1:g.74726482C>T GRCh37
NC_000014.7:g.73796235C>T NCBI36
NG_013092.1:g.25308C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.757C>T MANE Select ENSP00000261980.2:p.Leu253=
ENST00000261980.2:c.757C>T ENSP00000261980.2:p.Leu253=
NM_182894.2:c.757C>T NP_878314.1:p.Leu253=
XM_011536719.1:c.757C>T XP_011535021.1:p.Leu253=
NM_182894.3:c.757C>T MANE Select NP_878314.1:p.Leu253=
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