Canonical Allele Identifier: CA9972968

Gene: SOX18 TCEA2

Linked Data

• ClinVar Variation Id: 261029
• ClinVar RCV Id: RCV000249216 ; RCV000970761 ; RCV002503945
• dbSNP Id: rs144785707
• ExAC: 20:62680627 G / A
• gnomAD v2: 20-62680627-G-A
• gnomAD v3: 20-64049274-G-A
• gnomAD v4: 20-64049274-G-A
• MyVariant Identifiers: chr20:g.62680627G>A (hg19) ; chr20:g.64049274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64049274G>A , CM000682.2:g.64049274G>A	GRCh38
NC_000020.10:g.62680627G>A , CM000682.1:g.62680627G>A	GRCh37
NC_000020.9:g.62151071G>A	NCBI36
NG_008095.1:g.5353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340356.9:c.243C>T (SOX18) MANE Select	ENSP00000341815.7:p.Asp81=
ENST00000340356.8:c.243C>T (SOX18)	ENSP00000341815.7:p.Asp81=
NM_018419.2:c.243C>T (SOX18)	NP_060889.1:p.Asp81=
XM_011529022.1:c.-2320+6879G>A (TCEA2)	XP_011527324.1:n.-2320+6879G>A
XM_011529025.1:c.-2236+6879G>A (TCEA2)	XP_011527327.1:n.-2236+6879G>A
XM_024451978.1:c.-2236+6879G>A (TCEA2)	XP_024307746.1:n.-2236+6879G>A
NM_018419.3:c.243C>T (SOX18) MANE Select	NP_060889.1:p.Asp81=