Canonical Allele Identifier: CA511667520
Gene: SOX18 HGNC NCBI
TCEA2 HGNC NCBI

Linked Data

gnomAD v4: 20-64049235-C-G
MyVariant Identifiers: chr20:g.62680588C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.64049235C>G , CM000682.2:g.64049235C>G GRCh38
NC_000020.10:g.62680588C>G , CM000682.1:g.62680588C>G GRCh37
NC_000020.9:g.62151032C>G NCBI36
NG_008095.1:g.5392G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340356.9:c.282G>C (SOX18) MANE Select ENSP00000341815.7:p.Val94=
ENST00000340356.8:c.282G>C (SOX18) ENSP00000341815.7:p.Val94=
NM_018419.2:c.282G>C (SOX18) NP_060889.1:p.Val94=
XM_011529022.1:c.-2320+6840C>G (TCEA2) XP_011527324.1:n.-2320+6840C>G
XM_011529025.1:c.-2236+6840C>G (TCEA2) XP_011527327.1:n.-2236+6840C>G
XM_024451978.1:c.-2236+6840C>G (TCEA2) XP_024307746.1:n.-2236+6840C>G
NM_018419.3:c.282G>C (SOX18) MANE Select NP_060889.1:p.Val94=
Search 100 bp 5'
Search 100 bp 3'