Canonical Allele Identifier: CA390369399
Gene: VSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1329036276
gnomAD v2: 14-74726434-C-G
MyVariant Identifiers: chr14:g.74726434C>G (hg19) chr14:g.74259731C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259731C>G , CM000676.2:g.74259731C>G GRCh38
NC_000014.8:g.74726434C>G , CM000676.1:g.74726434C>G GRCh37
NC_000014.7:g.73796187C>G NCBI36
NG_013092.1:g.25260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.709C>G MANE Select ENSP00000261980.2:p.Leu237Val
ENST00000261980.2:c.709C>G ENSP00000261980.2:p.Leu237Val
NM_182894.2:c.709C>G NP_878314.1:p.Leu237Val
XM_011536719.1:c.709C>G XP_011535021.1:p.Leu237Val
NM_182894.3:c.709C>G MANE Select NP_878314.1:p.Leu237Val
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