Canonical Allele Identifier: CA2584810828

Gene: SPINT2

Linked Data

• gnomAD v4: 19-38288062-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38288067del , CM000681.2:g.38288067del	GRCh38
NC_000019.9:g.38778707del , CM000681.1:g.38778707del	GRCh37
NC_000019.8:g.43470547del	NCBI36
NG_013372.1:g.28610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.337+132del MANE Select	ENSP00000301244.5:n.337+132del
ENST00000301244.11:c.337+132del	ENSP00000301244.5:n.337+132del
ENST00000454580.7:c.166+132del	ENSP00000389788.2:n.166+132del
ENST00000587090.5:c.187+132del	ENSP00000466407.1:n.187+132del
ENST00000587516.5:c.278-1071del	ENSP00000465721.1:n.278-1071del
NM_001166103.1:c.166+132del	NP_001159575.1:n.166+132del
NM_021102.3:c.337+132del	NP_066925.1:n.337+132del
NM_021102.4:c.337+132del MANE Select	NP_066925.1:n.337+132del
NM_001166103.2:c.166+132del	NP_001159575.1:n.166+132del