Canonical Allele Identifier: CA2568532
Gene: SLC15A2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.121940930C>T
GRCh37 chr3:g.121659777C>T
Revel Score:
ENST00000489711 (MANE Select) 0.022
ENST00000542599 0.022
ENST00000295605 0.022
gnomAD v2:
3:121659777 C / T
gnomAD v3:
3:121940930 C / T
gnomAD v4:
chr3-121940930-C-T
Joint Max Group AF 0.00032406 (MID)
Genomes Max Group AF 0.00019437 (NFE)
Exomes Max Group AF 0.0003412 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121940930C>T , CM000665.2:g.121940930C>T GRCh38
NC_000003.11:g.121659777C>T , CM000665.1:g.121659777C>T GRCh37
NC_000003.10:g.123142467C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000489711.6:c.2113C>T MANE Select ENSP00000417085.1:p.Arg705Trp
ENST00000295605.6:c.2020C>T ENSP00000295605.2:p.Arg674Trp
ENST00000469422.1:n.510C>T
ENST00000489711.5:c.2113C>T ENSP00000417085.1:p.Arg705Trp
NM_001145998.1:c.2020C>T NP_001139470.1:p.Arg674Trp
NM_021082.3:c.2113C>T NP_066568.3:p.Arg705Trp
XM_005247722.2:c.2008C>T XP_005247779.1:p.Arg670Trp
XM_005247722.3:c.2008C>T XP_005247779.1:p.Arg670Trp
NM_021082.4:c.2113C>T MANE Select NP_066568.3:p.Arg705Trp
NM_001145998.2:c.2020C>T NP_001139470.1:p.Arg674Trp
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