Canonical Allele Identifier: CA390369141
Gene: VSX2 HGNC NCBI

Linked Data

gnomAD v4: 14-74259628-G-C
MyVariant Identifiers: chr14:g.74726331G>C (hg19) chr14:g.74259628G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259628G>C , CM000676.2:g.74259628G>C GRCh38
NC_000014.8:g.74726331G>C , CM000676.1:g.74726331G>C GRCh37
NC_000014.7:g.73796084G>C NCBI36
NG_013092.1:g.25157G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.606G>C MANE Select ENSP00000261980.2:p.Lys202Asn
ENST00000261980.2:c.606G>C ENSP00000261980.2:p.Lys202Asn
NM_182894.2:c.606G>C NP_878314.1:p.Lys202Asn
XM_011536719.1:c.606G>C XP_011535021.1:p.Lys202Asn
NM_182894.3:c.606G>C MANE Select NP_878314.1:p.Lys202Asn
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