Canonical Allele Identifier: CA599372332

Gene: F2

Linked Data

• dbSNP Id: rs1306883053
• gnomAD v2: 11-46747766-C-T
• MyVariant Identifiers: chr11:g.46747766C>T (hg19) ; chr11:g.46726216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726216C>T , CM000673.2:g.46726216C>T	GRCh38
NC_000011.9:g.46747766C>T , CM000673.1:g.46747766C>T	GRCh37
NC_000011.8:g.46704342C>T	NCBI36
NG_008953.1:g.12024C>T , LRG_551:g.12024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.874+43C>T MANE Select	ENSP00000308541.5:n.874+43C>T
ENST00000311907.9:c.874+43C>T	ENSP00000308541.5:n.874+43C>T
ENST00000442468.1:c.844+43C>T	ENSP00000387413.1:n.844+43C>T
ENST00000530231.5:c.874+43C>T	ENSP00000433907.1:n.874+43C>T
NM_000506.3:c.874+43C>T	NP_000497.1:n.874+43C>T
NM_000506.4:c.874+43C>T , LRG_551t1:c.874+43C>T	NP_000497.1:n.874+43C>T
NM_001311257.1:c.826+43C>T	NP_001298186.1:n.826+43C>T
XR_428840.2:n.918+43C>T
XR_428840.4:n.909+43C>T
NM_000506.5:c.874+43C>T MANE Select	NP_000497.1:n.874+43C>T
NM_001311257.2:c.826+43C>T	NP_001298186.1:n.826+43C>T