Canonical Allele Identifier: CA7266427
Gene: VSX2 HGNC NCBI

Linked Data

dbSNP Id: rs754747108
ExAC: 14:74726483 T / G
gnomAD v2: 14-74726483-T-G
gnomAD v3: 14-74259780-T-G
gnomAD v4: 14-74259780-T-G
MyVariant Identifiers: chr14:g.74726483T>G (hg19) chr14:g.74259780T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.758T>G MANE Select ENSP00000261980.2:p.Leu253Arg
ENST00000261980.2:c.758T>G ENSP00000261980.2:p.Leu253Arg
NM_182894.2:c.758T>G NP_878314.1:p.Leu253Arg
XM_011536719.1:c.758T>G XP_011535021.1:p.Leu253Arg
NM_182894.3:c.758T>G MANE Select NP_878314.1:p.Leu253Arg
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