Canonical Allele Identifier: CA390369505
Gene: VSX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259780T>A , CM000676.2:g.74259780T>A GRCh38
NC_000014.8:g.74726483T>A , CM000676.1:g.74726483T>A GRCh37
NC_000014.7:g.73796236T>A NCBI36
NG_013092.1:g.25309T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.758T>A MANE Select ENSP00000261980.2:p.Leu253Gln
ENST00000261980.2:c.758T>A ENSP00000261980.2:p.Leu253Gln
NM_182894.2:c.758T>A NP_878314.1:p.Leu253Gln
XM_011536719.1:c.758T>A XP_011535021.1:p.Leu253Gln
NM_182894.3:c.758T>A MANE Select NP_878314.1:p.Leu253Gln