Canonical Allele Identifier: CA405631571

Gene: SPINT2

Linked Data

• ClinVar Variation Id: 2008455
• ClinVar RCV Id: RCV002828628
• gnomAD v4: 19-38287890-G-A
• MyVariant Identifiers: chr19:g.38778530G>A (hg19) ; chr19:g.38287890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287890G>A , CM000681.2:g.38287890G>A	GRCh38
NC_000019.9:g.38778530G>A , CM000681.1:g.38778530G>A	GRCh37
NC_000019.8:g.43470370G>A	NCBI36
NG_013372.1:g.28433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.292G>A MANE Select	ENSP00000301244.5:p.Asp98Asn
ENST00000301244.11:c.292G>A	ENSP00000301244.5:p.Asp98Asn
ENST00000454580.7:c.121G>A	ENSP00000389788.2:p.Asp41Asn
ENST00000587090.5:c.142G>A	ENSP00000466407.1:p.Asp48Asn
ENST00000587516.5:c.278-1248G>A	ENSP00000465721.1:n.278-1248G>A
ENST00000590210.1:n.489G>A
ENST00000590510.5:c.142G>A	ENSP00000465301.1:p.Asp48Asn
ENST00000592007.1:c.142G>A	ENSP00000465561.1:p.Asp48Asn
NM_001166103.1:c.121G>A	NP_001159575.1:p.Asp41Asn
NM_021102.3:c.292G>A	NP_066925.1:p.Asp98Asn
NM_021102.4:c.292G>A MANE Select	NP_066925.1:p.Asp98Asn
NM_001166103.2:c.121G>A	NP_001159575.1:p.Asp41Asn