Canonical Allele Identifier: CA9972933

Gene: SOX18 TCEA2

Linked Data

• ClinVar Variation Id: 261030
• ClinVar RCV Id: RCV000253994 ; RCV001640560
• dbSNP Id: rs200837124
• ExAC: 20:62680478 T / G
• gnomAD v2: 20-62680478-T-G
• gnomAD v3: 20-64049125-T-G
• gnomAD v4: 20-64049125-T-G
• MyVariant Identifiers: chr20:g.62680478T>G (hg19) ; chr20:g.64049125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64049125T>G , CM000682.2:g.64049125T>G	GRCh38
NC_000020.10:g.62680478T>G , CM000682.1:g.62680478T>G	GRCh37
NC_000020.9:g.62150922T>G	NCBI36
NG_008095.1:g.5502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340356.9:c.358+34A>C (SOX18) MANE Select	ENSP00000341815.7:n.358+34A>C
ENST00000340356.8:c.358+34A>C (SOX18)	ENSP00000341815.7:n.358+34A>C
NM_018419.2:c.358+34A>C (SOX18)	NP_060889.1:n.358+34A>C
XM_011529022.1:c.-2320+6730T>G (TCEA2)	XP_011527324.1:n.-2320+6730T>G
XM_011529025.1:c.-2236+6730T>G (TCEA2)	XP_011527327.1:n.-2236+6730T>G
XM_024451978.1:c.-2236+6730T>G (TCEA2)	XP_024307746.1:n.-2236+6730T>G
NM_018419.3:c.358+34A>C (SOX18) MANE Select	NP_060889.1:n.358+34A>C