Canonical Allele Identifier: CA221652638

Gene: F2

Linked Data

• dbSNP Id: rs995509370
• gnomAD v2: 11-46748062-G-T
• gnomAD v4: 11-46726512-G-T
• MyVariant Identifiers: chr11:g.46748062G>T (hg19) ; chr11:g.46726512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726512G>T , CM000673.2:g.46726512G>T	GRCh38
NC_000011.9:g.46748062G>T , CM000673.1:g.46748062G>T	GRCh37
NC_000011.8:g.46704638G>T	NCBI36
NG_008953.1:g.12320G>T , LRG_551:g.12320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.889G>T MANE Select	ENSP00000308541.5:p.Glu297Ter
ENST00000311907.9:c.889G>T	ENSP00000308541.5:p.Glu297Ter
ENST00000442468.1:c.859G>T	ENSP00000387413.1:p.Glu287Ter
ENST00000530231.5:c.889G>T	ENSP00000433907.1:p.Glu297Ter
NM_000506.3:c.889G>T	NP_000497.1:p.Glu297Ter
NM_000506.4:c.889G>T , LRG_551t1:c.889G>T	NP_000497.1:p.Glu297Ter
NM_001311257.1:c.841G>T	NP_001298186.1:p.Glu281Ter
XR_428840.2:n.933G>T
XR_428840.4:n.924G>T
NM_000506.5:c.889G>T MANE Select	NP_000497.1:p.Glu297Ter
NM_001311257.2:c.841G>T	NP_001298186.1:p.Glu281Ter