Canonical Allele Identifier: CA380264719

Gene: F2

Linked Data

• gnomAD v4: 11-46725894-T-C
• MyVariant Identifiers: chr11:g.46747444T>C (hg19) ; chr11:g.46725894T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725894T>C , CM000673.2:g.46725894T>C	GRCh38
NC_000011.9:g.46747444T>C , CM000673.1:g.46747444T>C	GRCh37
NC_000011.8:g.46704020T>C	NCBI36
NG_008953.1:g.11702T>C , LRG_551:g.11702T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.595T>C MANE Select	ENSP00000308541.5:p.Ser199Pro
ENST00000311907.9:c.595T>C	ENSP00000308541.5:p.Ser199Pro
ENST00000442468.1:c.565T>C	ENSP00000387413.1:p.Ser189Pro
ENST00000490274.1:n.375T>C
ENST00000530231.5:c.595T>C	ENSP00000433907.1:p.Ser199Pro
NM_000506.3:c.595T>C	NP_000497.1:p.Ser199Pro
NM_000506.4:c.595T>C , LRG_551t1:c.595T>C	NP_000497.1:p.Ser199Pro
NM_001311257.1:c.547T>C	NP_001298186.1:p.Ser183Pro
XR_428840.2:n.639T>C
XR_428840.4:n.630T>C
NM_000506.5:c.595T>C MANE Select	NP_000497.1:p.Ser199Pro
NM_001311257.2:c.547T>C	NP_001298186.1:p.Ser183Pro