Canonical Allele Identifier: CA882041414

Gene: SPINT2

Linked Data

• dbSNP Id: rs1421907237
• gnomAD v3: 19-38287768-AAGG-A
• gnomAD v4: 19-38287768-AAGG-A
• MyVariant Identifiers: chr19:g.38778409_38778411del (hg19) ; chr19:g.38287769_38287771del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287771_38287773del , CM000681.2:g.38287771_38287773del	GRCh38
NC_000019.9:g.38778411_38778413del , CM000681.1:g.38778411_38778413del	GRCh37
NC_000019.8:g.43470251_43470253del	NCBI36
NG_013372.1:g.28314_28316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.278-105_278-103del MANE Select	ENSP00000301244.5:n.278-105_278-103del
ENST00000301244.11:c.278-105_278-103del	ENSP00000301244.5:n.278-105_278-103del
ENST00000454580.7:c.107-105_107-103del	ENSP00000389788.2:n.107-105_107-103del
ENST00000587090.5:c.128-105_128-103del	ENSP00000466407.1:n.128-105_128-103del
ENST00000587516.5:c.278-1367_278-1365del	ENSP00000465721.1:n.278-1367_278-1365del
ENST00000590210.1:n.475-105_475-103del
ENST00000590510.5:c.128-105_128-103del	ENSP00000465301.1:n.128-105_128-103del
ENST00000592007.1:c.128-105_128-103del	ENSP00000465561.1:n.128-105_128-103del
NM_001166103.1:c.107-105_107-103del	NP_001159575.1:n.107-105_107-103del
NM_021102.3:c.278-105_278-103del	NP_066925.1:n.278-105_278-103del
NM_021102.4:c.278-105_278-103del MANE Select	NP_066925.1:n.278-105_278-103del
NM_001166103.2:c.107-105_107-103del	NP_001159575.1:n.107-105_107-103del