Canonical Allele Identifier: CA5967201
Gene: F2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2641749
ClinVar RCV Id: RCV003395769
dbSNP Id: rs774640288
ExAC: 11:46749563 G / A
gnomAD v2: 11-46749563-G-A
gnomAD v3: 11-46728013-G-A
gnomAD v4: 11-46728013-G-A
MyVariant Identifiers: chr11:g.46749563G>A (hg19) chr11:g.46728013G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46728013G>A , CM000673.2:g.46728013G>A GRCh38
NC_000011.9:g.46749563G>A , CM000673.1:g.46749563G>A GRCh37
NC_000011.8:g.46706139G>A NCBI36
NG_008953.1:g.13821G>A , LRG_551:g.13821G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.1148G>A MANE Select ENSP00000308541.5:p.Arg383Gln
ENST00000311907.9:c.1148G>A ENSP00000308541.5:p.Arg383Gln
ENST00000530231.5:c.1148G>A ENSP00000433907.1:p.Arg383Gln
NM_000506.3:c.1148G>A NP_000497.1:p.Arg383Gln
NM_000506.4:c.1148G>A , LRG_551t1:c.1148G>A NP_000497.1:p.Arg383Gln
NM_001311257.1:c.1100G>A NP_001298186.1:p.Arg367Gln
XR_428840.2:n.1192G>A
XR_428840.4:n.1183G>A
NM_000506.5:c.1148G>A MANE Select NP_000497.1:p.Arg383Gln
NM_001311257.2:c.1100G>A NP_001298186.1:p.Arg367Gln
Search 100 bp 5'
Search 100 bp 3'