Canonical Allele Identifier: CA632859225

Gene: SPINT2

Linked Data

• dbSNP Id: rs1327898660
• gnomAD v2: 19-38778469-GTC-G
• gnomAD v4: 19-38287829-GTC-G
• MyVariant Identifiers: chr19:g.38778470_38778471del (hg19) ; chr19:g.38287830_38287831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287834_38287835del , CM000681.2:g.38287834_38287835del	GRCh38
NC_000019.9:g.38778474_38778475del , CM000681.1:g.38778474_38778475del	GRCh37
NC_000019.8:g.43470314_43470315del	NCBI36
NG_013372.1:g.28377_28378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.278-42_278-41del MANE Select	ENSP00000301244.5:n.278-42_278-41del
ENST00000301244.11:c.278-42_278-41del	ENSP00000301244.5:n.278-42_278-41del
ENST00000454580.7:c.107-42_107-41del	ENSP00000389788.2:n.107-42_107-41del
ENST00000587090.5:c.128-42_128-41del	ENSP00000466407.1:n.128-42_128-41del
ENST00000587516.5:c.278-1304_278-1303del	ENSP00000465721.1:n.278-1304_278-1303del
ENST00000590210.1:n.475-42_475-41del
ENST00000590510.5:c.128-42_128-41del	ENSP00000465301.1:n.128-42_128-41del
ENST00000592007.1:c.128-42_128-41del	ENSP00000465561.1:n.128-42_128-41del
NM_001166103.1:c.107-42_107-41del	NP_001159575.1:n.107-42_107-41del
NM_021102.3:c.278-42_278-41del	NP_066925.1:n.278-42_278-41del
NM_021102.4:c.278-42_278-41del MANE Select	NP_066925.1:n.278-42_278-41del
NM_001166103.2:c.107-42_107-41del	NP_001159575.1:n.107-42_107-41del