Canonical Allele Identifier: CA388605776
Gene: SLC10A2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.103049340G>T
GRCh37 chr13:g.103701690G>T
Revel Score:
ENST00000245312 (MANE Select) 0.583
gnomAD v2:
13:103701690 G / T
gnomAD v3:
13:103049340 G / T
gnomAD v4:
chr13-103049340-G-T
Joint Max Group AF 0.00004374 (AFR)
Genomes Max Group AF 0.00006285 (AFR)
ClinVar RCV:
RCV003062756
ClinVar Variation:
2143607
dbSNP:
56398830
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.103049340G>T , CM000675.2:g.103049340G>T GRCh38
NC_000013.10:g.103701690G>T , CM000675.1:g.103701690G>T GRCh37
NC_000013.9:g.102499691G>T NCBI36
NG_016648.1:g.22507C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245312.5:c.868C>A MANE Select ENSP00000245312.3:p.Pro290Thr
ENST00000245312.4:c.868C>A ENSP00000245312.3:p.Pro290Thr
NM_000452.2:c.868C>A NP_000443.1:p.Pro290Thr
NM_000452.3:c.868C>A MANE Select NP_000443.2:p.Pro290Thr
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