Canonical Allele Identifier: CA9411428

Gene: SPINT2

Linked Data

• dbSNP Id: rs750333950
• ExAC: 19:38778598 G / A
• gnomAD v2: 19-38778598-G-A
• gnomAD v4: 19-38287958-G-A
• MyVariant Identifiers: chr19:g.38778598G>A (hg19) ; chr19:g.38287958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287958G>A , CM000681.2:g.38287958G>A	GRCh38
NC_000019.9:g.38778598G>A , CM000681.1:g.38778598G>A	GRCh37
NC_000019.8:g.43470438G>A	NCBI36
NG_013372.1:g.28501G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301244.12:c.337+23G>A MANE Select	ENSP00000301244.5:n.337+23G>A
ENST00000301244.11:c.337+23G>A	ENSP00000301244.5:n.337+23G>A
ENST00000454580.7:c.166+23G>A	ENSP00000389788.2:n.166+23G>A
ENST00000587090.5:c.187+23G>A	ENSP00000466407.1:n.187+23G>A
ENST00000587516.5:c.278-1180G>A	ENSP00000465721.1:n.278-1180G>A
ENST00000590210.1:n.557G>A
NM_001166103.1:c.166+23G>A	NP_001159575.1:n.166+23G>A
NM_021102.3:c.337+23G>A	NP_066925.1:n.337+23G>A
NM_021102.4:c.337+23G>A MANE Select	NP_066925.1:n.337+23G>A
NM_001166103.2:c.166+23G>A	NP_001159575.1:n.166+23G>A