Canonical Allele Identifier: CA14223938
Gene: GFOD2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.67674994A>G
GRCh37 chr16:g.67708897A>G
gnomAD v2:
16:67708897 A / G
gnomAD v3:
16:67674994 A / G
gnomAD v4:
chr16-67674994-A-G
Joint Max Group AF 0.62749606 (AFR)
Genomes Max Group AF 0.62590453 (AFR)
Exomes Max Group AF 0.62424337 (AFR)
dbSNP:
12449157
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67674994A>G , CM000678.2:g.67674994A>G GRCh38
NC_000016.9:g.67708897A>G , CM000678.1:g.67708897A>G GRCh37
NC_000016.8:g.66266398A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000268797.12:c.*161T>C MANE Select ENSP00000268797.7:n.*161T>C
ENST00000268797.11:c.*161T>C ENSP00000268797.7:n.*161T>C
ENST00000602377.1:c.*997T>C ENSP00000477784.1:n.*997T>C
ENST00000602522.1:n.2491T>C
NM_030819.3:c.*161T>C NP_110446.3:n.*161T>C
NR_027398.1:n.1268T>C
XM_006721288.2:c.*161T>C XP_006721351.1:n.*161T>C
XM_006721288.4:c.*161T>C XP_006721351.1:n.*161T>C
NM_030819.4:c.*161T>C MANE Select NP_110446.3:n.*161T>C
NR_027398.2:n.1214T>C
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