Canonical Allele Identifier: CA117332

Gene: SPINT2

Linked Data

• ClinVar Variation Id: 5208
• ClinVar RCV Id: RCV002468921
• dbSNP Id: rs121908404
• gnomAD v4: 19-38264893-A-T
• MyVariant Identifiers: chr19:g.38755533A>T (hg19) ; chr19:g.38264893A>T (hg38)
• PubMed: PMID:19185281

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38264893A>T , CM000681.2:g.38264893A>T	GRCh38
NC_000019.9:g.38755533A>T , CM000681.1:g.38755533A>T	GRCh37
NC_000019.8:g.43447373A>T	NCBI36
NG_013372.1:g.5436A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301244.12:c.1A>T MANE Select	ENSP00000301244.5:p.Met1Leu
ENST00000301244.11:c.1A>T	ENSP00000301244.5:p.Met1Leu
ENST00000454580.7:c.1A>T	ENSP00000389788.2:p.Met1Leu
ENST00000587090.5:c.-45+170A>T	ENSP00000466407.1:n.-45+170A>T
ENST00000587516.5:c.1A>T	ENSP00000465721.1:p.Met1Leu
ENST00000590210.1:n.198A>T
ENST00000590510.5:c.-44-18734A>T	ENSP00000465301.1:n.-44-18734A>T
NM_001166103.1:c.1A>T	NP_001159575.1:p.Met1Leu
NM_021102.3:c.1A>T	NP_066925.1:p.Met1Leu
NM_021102.4:c.1A>T MANE Select	NP_066925.1:p.Met1Leu
NM_001166103.2:c.1A>T	NP_001159575.1:p.Met1Leu