Canonical Allele Identifier: CA7084829
Gene: SLC39A2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.21000992T>C
GRCh37 chr14:g.21469151T>C
Revel Score:
ENST00000298681 (MANE Select) 0.109
gnomAD v2:
14:21469151 T / C
gnomAD v3:
14:21000992 T / C
gnomAD v4:
chr14-21000992-T-C
Joint Max Group AF 0.48024645 (AMR)
Genomes Max Group AF 0.44576332 (AMR)
Exomes Max Group AF 0.49385765 (AMR)
dbSNP:
2234636
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21000992T>C , CM000676.2:g.21000992T>C GRCh38
NC_000014.8:g.21469151T>C , CM000676.1:g.21469151T>C GRCh37
NC_000014.7:g.20538991T>C NCBI36
NG_017065.1:g.6738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298681.5:c.343T>C MANE Select ENSP00000298681.4:p.Phe115Leu
ENST00000298681.4:c.343T>C ENSP00000298681.4:p.Phe115Leu
ENST00000554422.5:c.*80T>C ENSP00000452568.1:n.*80T>C
NM_001256588.1:c.*80T>C NP_001243517.1:n.*80T>C
NM_014579.3:c.343T>C NP_055394.2:p.Phe115Leu
NM_014579.4:c.343T>C MANE Select NP_055394.2:p.Phe115Leu
NM_001256588.2:c.*80T>C NP_001243517.1:n.*80T>C
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