Canonical Allele Identifier: CA2334952004

Gene: SPINT2

Linked Data

• dbSNP Id: rs1968664250
• gnomAD v4: 19-38288067-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38288068_38288070del , CM000681.2:g.38288068_38288070del	GRCh38
NC_000019.9:g.38778708_38778710del , CM000681.1:g.38778708_38778710del	GRCh37
NC_000019.8:g.43470548_43470550del	NCBI36
NG_013372.1:g.28611_28613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.337+133_337+135del MANE Select	ENSP00000301244.5:n.337+133_337+135del
ENST00000301244.11:c.337+133_337+135del	ENSP00000301244.5:n.337+133_337+135del
ENST00000454580.7:c.166+133_166+135del	ENSP00000389788.2:n.166+133_166+135del
ENST00000587090.5:c.187+133_187+135del	ENSP00000466407.1:n.187+133_187+135del
ENST00000587516.5:c.278-1070_278-1068del	ENSP00000465721.1:n.278-1070_278-1068del
NM_001166103.1:c.166+133_166+135del	NP_001159575.1:n.166+133_166+135del
NM_021102.3:c.337+133_337+135del	NP_066925.1:n.337+133_337+135del
NM_021102.4:c.337+133_337+135del MANE Select	NP_066925.1:n.337+133_337+135del
NM_001166103.2:c.166+133_166+135del	NP_001159575.1:n.166+133_166+135del