Canonical Allele Identifier: CA380265163

Gene: F2

Linked Data

• dbSNP Id: rs141678604
• gnomAD v3: 11-46726017-G-C
• gnomAD v4: 11-46726017-G-C
• MyVariant Identifiers: chr11:g.46747567G>C (hg19) ; chr11:g.46726017G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726017G>C , CM000673.2:g.46726017G>C	GRCh38
NC_000011.9:g.46747567G>C , CM000673.1:g.46747567G>C	GRCh37
NC_000011.8:g.46704143G>C	NCBI36
NG_008953.1:g.11825G>C , LRG_551:g.11825G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.718G>C MANE Select	ENSP00000308541.5:p.Ala240Pro
ENST00000311907.9:c.718G>C	ENSP00000308541.5:p.Ala240Pro
ENST00000442468.1:c.688G>C	ENSP00000387413.1:p.Ala230Pro
ENST00000490274.1:n.498G>C
ENST00000530231.5:c.718G>C	ENSP00000433907.1:p.Ala240Pro
NM_000506.3:c.718G>C	NP_000497.1:p.Ala240Pro
NM_000506.4:c.718G>C , LRG_551t1:c.718G>C	NP_000497.1:p.Ala240Pro
NM_001311257.1:c.670G>C	NP_001298186.1:p.Ala224Pro
XR_428840.2:n.762G>C
XR_428840.4:n.753G>C
NM_000506.5:c.718G>C MANE Select	NP_000497.1:p.Ala240Pro
NM_001311257.2:c.670G>C	NP_001298186.1:p.Ala224Pro