Canonical Allele Identifier: CA390369355
Gene: VSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259710A>C , CM000676.2:g.74259710A>C GRCh38
NC_000014.8:g.74726413A>C , CM000676.1:g.74726413A>C GRCh37
NC_000014.7:g.73796166A>C NCBI36
NG_013092.1:g.25239A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.688A>C MANE Select ENSP00000261980.2:p.Ile230Leu
ENST00000261980.2:c.688A>C ENSP00000261980.2:p.Ile230Leu
NM_182894.2:c.688A>C NP_878314.1:p.Ile230Leu
XM_011536719.1:c.688A>C XP_011535021.1:p.Ile230Leu
NM_182894.3:c.688A>C MANE Select NP_878314.1:p.Ile230Leu