Canonical Allele Identifier: CA11972659
Gene: F2R HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.76718494G>A
GRCh37 chr5:g.76014319G>A
gnomAD v2:
5:76014319 G / A
gnomAD v3:
5:76718494 G / A
gnomAD v4:
chr5-76718494-G-A
Joint Max Group AF 0.68902013 (EAS)
Genomes Max Group AF 0.68902013 (EAS)
dbSNP:
37243
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76718494G>A , CM000667.2:g.76718494G>A GRCh38
NC_000005.9:g.76014319G>A , CM000667.1:g.76014319G>A GRCh37
NC_000005.8:g.76050075G>A NCBI36
NG_032906.1:g.7452G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319211.5:c.88+2099G>A MANE Select ENSP00000321326.4:n.88+2099G>A
ENST00000319211.4:c.88+2099G>A ENSP00000321326.4:n.88+2099G>A
NM_001311313.1:c.-398+2099G>A NP_001298242.1:n.-398+2099G>A
NM_001992.3:c.88+2099G>A NP_001983.2:n.88+2099G>A
NM_001992.4:c.88+2099G>A NP_001983.2:n.88+2099G>A
NM_001992.5:c.88+2099G>A MANE Select NP_001983.2:n.88+2099G>A
NM_001311313.2:c.-398+2099G>A NP_001298242.1:n.-398+2099G>A
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