Canonical Allele Identifier: CA308080905
Gene: SPINT2 HGNC NCBI

Linked Data

dbSNP Id: rs985219210
gnomAD v2: 19-38778823-C-G
gnomAD v3: 19-38288183-C-G
gnomAD v4: 19-38288183-C-G
MyVariant Identifiers: chr19:g.38778823C>G (hg19) chr19:g.38288183C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38288183C>G , CM000681.2:g.38288183C>G GRCh38
NC_000019.9:g.38778823C>G , CM000681.1:g.38778823C>G GRCh37
NC_000019.8:g.43470663C>G NCBI36
NG_013372.1:g.28726C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301244.12:c.337+248C>G MANE Select ENSP00000301244.5:n.337+248C>G
ENST00000301244.11:c.337+248C>G ENSP00000301244.5:n.337+248C>G
ENST00000454580.7:c.166+248C>G ENSP00000389788.2:n.166+248C>G
ENST00000587090.5:c.187+248C>G ENSP00000466407.1:n.187+248C>G
ENST00000587516.5:c.278-955C>G ENSP00000465721.1:n.278-955C>G
NM_001166103.1:c.166+248C>G NP_001159575.1:n.166+248C>G
NM_021102.3:c.337+248C>G NP_066925.1:n.337+248C>G
NM_021102.4:c.337+248C>G MANE Select NP_066925.1:n.337+248C>G
NM_001166103.2:c.166+248C>G NP_001159575.1:n.166+248C>G
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