Canonical Allele Identifier: CA380269304

Gene: F2

Linked Data

• ClinVar Variation Id: 1324366
• ClinVar RCV Id: RCV001781071 ; RCV003626687
• dbSNP Id: rs2064886777
• gnomAD v4: 11-46728024-C-T
• MyVariant Identifiers: chr11:g.46749574C>T (hg19) ; chr11:g.46728024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728024C>T , CM000673.2:g.46728024C>T	GRCh38
NC_000011.9:g.46749574C>T , CM000673.1:g.46749574C>T	GRCh37
NC_000011.8:g.46706150C>T	NCBI36
NG_008953.1:g.13832C>T , LRG_551:g.13832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1159C>T MANE Select	ENSP00000308541.5:p.Gln387Ter
ENST00000311907.9:c.1159C>T	ENSP00000308541.5:p.Gln387Ter
ENST00000530231.5:c.1159C>T	ENSP00000433907.1:p.Gln387Ter
NM_000506.3:c.1159C>T	NP_000497.1:p.Gln387Ter
NM_000506.4:c.1159C>T , LRG_551t1:c.1159C>T	NP_000497.1:p.Gln387Ter
NM_001311257.1:c.1111C>T	NP_001298186.1:p.Gln371Ter
XR_428840.2:n.1203C>T
XR_428840.4:n.1194C>T
NM_000506.5:c.1159C>T MANE Select	NP_000497.1:p.Gln387Ter
NM_001311257.2:c.1111C>T	NP_001298186.1:p.Gln371Ter