Canonical Allele Identifier: CA405631534

Gene: SPINT2

Linked Data

• ClinVar Variation Id: 2290500
• ClinVar RCV Id: RCV002854425
• MyVariant Identifiers: chr19:g.38778521G>A (hg19) ; chr19:g.38287881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287881G>A , CM000681.2:g.38287881G>A	GRCh38
NC_000019.9:g.38778521G>A , CM000681.1:g.38778521G>A	GRCh37
NC_000019.8:g.43470361G>A	NCBI36
NG_013372.1:g.28424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.283G>A MANE Select	ENSP00000301244.5:p.Ala95Thr
ENST00000301244.11:c.283G>A	ENSP00000301244.5:p.Ala95Thr
ENST00000454580.7:c.112G>A	ENSP00000389788.2:p.Ala38Thr
ENST00000587090.5:c.133G>A	ENSP00000466407.1:p.Ala45Thr
ENST00000587516.5:c.278-1257G>A	ENSP00000465721.1:n.278-1257G>A
ENST00000590210.1:n.480G>A
ENST00000590510.5:c.133G>A	ENSP00000465301.1:p.Ala45Thr
ENST00000592007.1:c.133G>A	ENSP00000465561.1:p.Ala45Thr
NM_001166103.1:c.112G>A	NP_001159575.1:p.Ala38Thr
NM_021102.3:c.283G>A	NP_066925.1:p.Ala95Thr
NM_021102.4:c.283G>A MANE Select	NP_066925.1:p.Ala95Thr
NM_001166103.2:c.112G>A	NP_001159575.1:p.Ala38Thr