Canonical Allele Identifier: CA117331

Gene: SPINT2

Linked Data

• ClinVar Variation Id: 5207
• ClinVar RCV Id: RCV002468920
• dbSNP Id: rs112576957
• MyVariant Identifiers: chr19:g.38780922T>A (hg19) ; chr19:g.38290282T>A (hg38)
• PubMed: PMID:19185281

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38290282T>A , CM000681.2:g.38290282T>A	GRCh38
NC_000019.9:g.38780922T>A , CM000681.1:g.38780922T>A	GRCh37
NC_000019.8:g.43472762T>A	NCBI36
NG_013372.1:g.30825T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.553+2T>A MANE Select	ENSP00000301244.5:n.553+2T>A
ENST00000301244.11:c.553+2T>A	ENSP00000301244.5:n.553+2T>A
ENST00000454580.7:c.382+2T>A	ENSP00000389788.2:n.382+2T>A
ENST00000585357.1:n.1875+2T>A
ENST00000587090.5:c.403+2T>A	ENSP00000466407.1:n.403+2T>A
ENST00000587334.1:c.94+2T>A
ENST00000587516.5:c.493+2T>A	ENSP00000465721.1:n.493+2T>A
ENST00000587519.4:c.203+2T>A
ENST00000589749.1:n.473+2T>A
ENST00000590738.1:c.216+2T>A
ENST00000591889.2:c.186+2T>A
NM_001166103.1:c.382+2T>A	NP_001159575.1:n.382+2T>A
NM_021102.3:c.553+2T>A	NP_066925.1:n.553+2T>A
NM_021102.4:c.553+2T>A MANE Select	NP_066925.1:n.553+2T>A
NM_001166103.2:c.382+2T>A	NP_001159575.1:n.382+2T>A