Canonical Allele Identifier: CA390369468
Gene: VSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259761T>C , CM000676.2:g.74259761T>C GRCh38
NC_000014.8:g.74726464T>C , CM000676.1:g.74726464T>C GRCh37
NC_000014.7:g.73796217T>C NCBI36
NG_013092.1:g.25290T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.739T>C MANE Select ENSP00000261980.2:p.Ser247Pro
ENST00000261980.2:c.739T>C ENSP00000261980.2:p.Ser247Pro
NM_182894.2:c.739T>C NP_878314.1:p.Ser247Pro
XM_011536719.1:c.739T>C XP_011535021.1:p.Ser247Pro
NM_182894.3:c.739T>C MANE Select NP_878314.1:p.Ser247Pro