Canonical Allele Identifier: CA380265068

Gene: F2

Linked Data

• gnomAD v4: 11-46725994-T-C
• MyVariant Identifiers: chr11:g.46747544T>C (hg19) ; chr11:g.46725994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725994T>C , CM000673.2:g.46725994T>C	GRCh38
NC_000011.9:g.46747544T>C , CM000673.1:g.46747544T>C	GRCh37
NC_000011.8:g.46704120T>C	NCBI36
NG_008953.1:g.11802T>C , LRG_551:g.11802T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.695T>C MANE Select	ENSP00000308541.5:p.Leu232Pro
ENST00000311907.9:c.695T>C	ENSP00000308541.5:p.Leu232Pro
ENST00000442468.1:c.665T>C	ENSP00000387413.1:p.Leu222Pro
ENST00000490274.1:n.475T>C
ENST00000530231.5:c.695T>C	ENSP00000433907.1:p.Leu232Pro
NM_000506.3:c.695T>C	NP_000497.1:p.Leu232Pro
NM_000506.4:c.695T>C , LRG_551t1:c.695T>C	NP_000497.1:p.Leu232Pro
NM_001311257.1:c.647T>C	NP_001298186.1:p.Leu216Pro
XR_428840.2:n.739T>C
XR_428840.4:n.730T>C
NM_000506.5:c.695T>C MANE Select	NP_000497.1:p.Leu232Pro
NM_001311257.2:c.647T>C	NP_001298186.1:p.Leu216Pro