Canonical Allele Identifier: CA090909
Gene: F2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46725897G>A
GRCh37 chr11:g.46747447G>A
Revel Score:
ENST00000311907 (MANE Select) 0.501
ENST00000530231 0.501
ENST00000442468 0.501
ENST00000446804 0.063
gnomAD v2:
11:46747447 G / A
gnomAD v3:
11:46725897 G / A
gnomAD v4:
chr11-46725897-G-A
Joint Max Group AF 0.00230889 (NFE)
Genomes Max Group AF 0.00221969 (NFE)
Exomes Max Group AF 0.00229826 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46725897G>A , CM000673.2:g.46725897G>A GRCh38
NC_000011.9:g.46747447G>A , CM000673.1:g.46747447G>A GRCh37
NC_000011.8:g.46704023G>A NCBI36
NG_008953.1:g.11705G>A , LRG_551:g.11705G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.598G>A MANE Select ENSP00000308541.5:p.Glu200Lys
ENST00000311907.9:c.598G>A ENSP00000308541.5:p.Glu200Lys
ENST00000442468.1:c.568G>A ENSP00000387413.1:p.Glu190Lys
ENST00000490274.1:n.378G>A
ENST00000530231.5:c.598G>A ENSP00000433907.1:p.Glu200Lys
NM_000506.3:c.598G>A NP_000497.1:p.Glu200Lys
NM_000506.4:c.598G>A , LRG_551t1:c.598G>A NP_000497.1:p.Glu200Lys
NM_001311257.1:c.550G>A NP_001298186.1:p.Glu184Lys
XR_428840.2:n.642G>A
XR_428840.4:n.633G>A
NM_000506.5:c.598G>A MANE Select NP_000497.1:p.Glu200Lys
NM_001311257.2:c.550G>A NP_001298186.1:p.Glu184Lys
Search 100 bp 5'
Search 100 bp 3'