Canonical Allele Identifier: CA380270165
Gene: F2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46728157G>C
GRCh37 chr11:g.46749707G>C
Revel Score:
ENST00000311907 (MANE Select) 0.938
ENST00000530231 0.938
gnomAD v4:
chr11-46728157-G-C
Joint Max Group AF 0.00006572 (NFE)
Exomes Max Group AF 0.00006974 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46728157G>C , CM000673.2:g.46728157G>C GRCh38
NC_000011.9:g.46749707G>C , CM000673.1:g.46749707G>C GRCh37
NC_000011.8:g.46706283G>C NCBI36
NG_008953.1:g.13965G>C , LRG_551:g.13965G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.1292G>C MANE Select ENSP00000308541.5:p.Arg431Pro
ENST00000311907.9:c.1292G>C ENSP00000308541.5:p.Arg431Pro
ENST00000530231.5:c.1292G>C ENSP00000433907.1:p.Arg431Pro
NM_000506.3:c.1292G>C NP_000497.1:p.Arg431Pro
NM_000506.4:c.1292G>C , LRG_551t1:c.1292G>C NP_000497.1:p.Arg431Pro
NM_001311257.1:c.1244G>C NP_001298186.1:p.Arg415Pro
XR_428840.2:n.1336G>C
XR_428840.4:n.1327G>C
NM_000506.5:c.1292G>C MANE Select NP_000497.1:p.Arg431Pro
NM_001311257.2:c.1244G>C NP_001298186.1:p.Arg415Pro
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