Canonical Allele Identifier: CA409755346
Gene: SOX18 HGNC NCBI
TCEA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.62680590C>G (hg19) chr20:g.64049237C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.64049237C>G , CM000682.2:g.64049237C>G GRCh38
NC_000020.10:g.62680590C>G , CM000682.1:g.62680590C>G GRCh37
NC_000020.9:g.62151034C>G NCBI36
NG_008095.1:g.5390G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340356.9:c.280G>C (SOX18) MANE Select ENSP00000341815.7:p.Val94Leu
ENST00000340356.8:c.280G>C (SOX18) ENSP00000341815.7:p.Val94Leu
NM_018419.2:c.280G>C (SOX18) NP_060889.1:p.Val94Leu
XM_011529022.1:c.-2320+6842C>G (TCEA2) XP_011527324.1:n.-2320+6842C>G
XM_011529025.1:c.-2236+6842C>G (TCEA2) XP_011527327.1:n.-2236+6842C>G
XM_024451978.1:c.-2236+6842C>G (TCEA2) XP_024307746.1:n.-2236+6842C>G
NM_018419.3:c.280G>C (SOX18) MANE Select NP_060889.1:p.Val94Leu
Search 100 bp 5'
Search 100 bp 3'