Canonical Allele Identifier: CA7084761
Gene: SLC39A2 HGNC NCBI
COSMIC:
COSM5425313 (not active)
MyVariant.info:
GRCh38 chr14:g.20999754T>G
GRCh37 chr14:g.21467913T>G
Revel Score:
ENST00000554422 0.063
ENST00000298681 (MANE Select) 0.063
gnomAD v2:
14:21467913 T / G
gnomAD v3:
14:20999754 T / G
gnomAD v4:
chr14-20999754-T-G
Joint Max Group AF 0.89246504 (AFR)
Genomes Max Group AF 0.88539023 (AFR)
Exomes Max Group AF 0.89599552 (AFR)
ClinVar RCV:
RCV001645979
ClinVar Variation:
1243818
dbSNP:
2234632
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20999754T>G , CM000676.2:g.20999754T>G GRCh38
NC_000014.8:g.21467913T>G , CM000676.1:g.21467913T>G GRCh37
NC_000014.7:g.20537753T>G NCBI36
NG_017065.1:g.5500T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298681.5:c.128T>G MANE Select ENSP00000298681.4:p.Leu43Arg
ENST00000298681.4:c.128T>G ENSP00000298681.4:p.Leu43Arg
ENST00000554128.1:n.284T>G
ENST00000554422.5:c.128T>G ENSP00000452568.1:p.Leu43Arg
NM_001256588.1:c.128T>G NP_001243517.1:p.Leu43Arg
NM_014579.3:c.128T>G NP_055394.2:p.Leu43Arg
NM_014579.4:c.128T>G MANE Select NP_055394.2:p.Leu43Arg
NM_001256588.2:c.128T>G NP_001243517.1:p.Leu43Arg
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