Canonical Allele Identifier: CA9411424

Gene: SPINT2

Linked Data

• ClinVar Variation Id: 1631308
• ClinVar RCV Id: RCV002123964
• dbSNP Id: rs759143848
• ExAC: 19:38778595 C / T
• gnomAD v2: 19-38778595-C-T
• gnomAD v3: 19-38287955-C-T
• gnomAD v4: 19-38287955-C-T
• MyVariant Identifiers: chr19:g.38778595C>T (hg19) ; chr19:g.38287955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287955C>T , CM000681.2:g.38287955C>T	GRCh38
NC_000019.9:g.38778595C>T , CM000681.1:g.38778595C>T	GRCh37
NC_000019.8:g.43470435C>T	NCBI36
NG_013372.1:g.28498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.337+20C>T MANE Select	ENSP00000301244.5:n.337+20C>T
ENST00000301244.11:c.337+20C>T	ENSP00000301244.5:n.337+20C>T
ENST00000454580.7:c.166+20C>T	ENSP00000389788.2:n.166+20C>T
ENST00000587090.5:c.187+20C>T	ENSP00000466407.1:n.187+20C>T
ENST00000587516.5:c.278-1183C>T	ENSP00000465721.1:n.278-1183C>T
ENST00000590210.1:n.554C>T
NM_001166103.1:c.166+20C>T	NP_001159575.1:n.166+20C>T
NM_021102.3:c.337+20C>T	NP_066925.1:n.337+20C>T
NM_021102.4:c.337+20C>T MANE Select	NP_066925.1:n.337+20C>T
NM_001166103.2:c.166+20C>T	NP_001159575.1:n.166+20C>T