Canonical Allele Identifier: CA390369367
Gene: VSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259716C>A , CM000676.2:g.74259716C>A GRCh38
NC_000014.8:g.74726419C>A , CM000676.1:g.74726419C>A GRCh37
NC_000014.7:g.73796172C>A NCBI36
NG_013092.1:g.25245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.694C>A MANE Select ENSP00000261980.2:p.Leu232Met
ENST00000261980.2:c.694C>A ENSP00000261980.2:p.Leu232Met
NM_182894.2:c.694C>A NP_878314.1:p.Leu232Met
XM_011536719.1:c.694C>A XP_011535021.1:p.Leu232Met
NM_182894.3:c.694C>A MANE Select NP_878314.1:p.Leu232Met