Canonical Allele Identifier: CA995710921
Gene: SPINT2 HGNC NCBI

Linked Data

dbSNP Id: rs922190411
gnomAD v3: 19-38288152-G-C
gnomAD v4: 19-38288152-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38288152G>C , CM000681.2:g.38288152G>C GRCh38
NC_000019.9:g.38778792G>C , CM000681.1:g.38778792G>C GRCh37
NC_000019.8:g.43470632G>C NCBI36
NG_013372.1:g.28695G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301244.12:c.337+217G>C MANE Select ENSP00000301244.5:n.337+217G>C
ENST00000301244.11:c.337+217G>C ENSP00000301244.5:n.337+217G>C
ENST00000454580.7:c.166+217G>C ENSP00000389788.2:n.166+217G>C
ENST00000587090.5:c.187+217G>C ENSP00000466407.1:n.187+217G>C
ENST00000587516.5:c.278-986G>C ENSP00000465721.1:n.278-986G>C
NM_001166103.1:c.166+217G>C NP_001159575.1:n.166+217G>C
NM_021102.3:c.337+217G>C NP_066925.1:n.337+217G>C
NM_021102.4:c.337+217G>C MANE Select NP_066925.1:n.337+217G>C
NM_001166103.2:c.166+217G>C NP_001159575.1:n.166+217G>C
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