Canonical Allele Identifier: CA409755367
Gene: SOX18 HGNC NCBI
TCEA2 HGNC NCBI

Linked Data

gnomAD v4: 20-64049240-T-C
MyVariant Identifiers: chr20:g.62680593T>C (hg19) chr20:g.64049240T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.64049240T>C , CM000682.2:g.64049240T>C GRCh38
NC_000020.10:g.62680593T>C , CM000682.1:g.62680593T>C GRCh37
NC_000020.9:g.62151037T>C NCBI36
NG_008095.1:g.5387A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340356.9:c.277A>G (SOX18) MANE Select ENSP00000341815.7:p.Met93Val
ENST00000340356.8:c.277A>G (SOX18) ENSP00000341815.7:p.Met93Val
NM_018419.2:c.277A>G (SOX18) NP_060889.1:p.Met93Val
XM_011529022.1:c.-2320+6845T>C (TCEA2) XP_011527324.1:n.-2320+6845T>C
XM_011529025.1:c.-2236+6845T>C (TCEA2) XP_011527327.1:n.-2236+6845T>C
XM_024451978.1:c.-2236+6845T>C (TCEA2) XP_024307746.1:n.-2236+6845T>C
NM_018419.3:c.277A>G (SOX18) MANE Select NP_060889.1:p.Met93Val
Search 100 bp 5'
Search 100 bp 3'