Canonical Allele Identifier: CA255201947
Gene: SLC10A2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.103049423G>T
GRCh37 chr13:g.103701773G>T
Revel Score:
ENST00000245312 (MANE Select) 0.835
gnomAD v2:
13:103701773 G / T
gnomAD v3:
13:103049423 G / T
gnomAD v4:
chr13-103049423-G-T
Joint Max Group AF 0.00003422 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003459 (NFE)
ClinVar RCV:
RCV003707578
ClinVar Variation:
2878315
dbSNP:
72547505
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.103049423G>T , CM000675.2:g.103049423G>T GRCh38
NC_000013.10:g.103701773G>T , CM000675.1:g.103701773G>T GRCh37
NC_000013.9:g.102499774G>T NCBI36
NG_016648.1:g.22424C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245312.5:c.785C>A MANE Select ENSP00000245312.3:p.Thr262Lys
ENST00000245312.4:c.785C>A ENSP00000245312.3:p.Thr262Lys
NM_000452.2:c.785C>A NP_000443.1:p.Thr262Lys
NM_000452.3:c.785C>A MANE Select NP_000443.2:p.Thr262Lys
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