Canonical Allele Identifier: CA995710926

Gene: SPINT2

Linked Data

• dbSNP Id: rs1968665670
• gnomAD v3: 19-38288160-TC-T
• gnomAD v4: 19-38288160-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38288162del , CM000681.2:g.38288162del	GRCh38
NC_000019.9:g.38778802del , CM000681.1:g.38778802del	GRCh37
NC_000019.8:g.43470642del	NCBI36
NG_013372.1:g.28705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.337+227del MANE Select	ENSP00000301244.5:n.337+227del
ENST00000301244.11:c.337+227del	ENSP00000301244.5:n.337+227del
ENST00000454580.7:c.166+227del	ENSP00000389788.2:n.166+227del
ENST00000587090.5:c.187+227del	ENSP00000466407.1:n.187+227del
ENST00000587516.5:c.278-976del	ENSP00000465721.1:n.278-976del
NM_001166103.1:c.166+227del	NP_001159575.1:n.166+227del
NM_021102.3:c.337+227del	NP_066925.1:n.337+227del
NM_021102.4:c.337+227del MANE Select	NP_066925.1:n.337+227del
NM_001166103.2:c.166+227del	NP_001159575.1:n.166+227del