Canonical Allele Identifier: CA937603929

Gene: F2

Linked Data

• dbSNP Id: rs2064867138
• gnomAD v3: 11-46725687-C-T
• gnomAD v4: 11-46725687-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725687C>T , CM000673.2:g.46725687C>T	GRCh38
NC_000011.9:g.46747237C>T , CM000673.1:g.46747237C>T	GRCh37
NC_000011.8:g.46703813C>T	NCBI36
NG_008953.1:g.11495C>T , LRG_551:g.11495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.560-172C>T MANE Select	ENSP00000308541.5:n.560-172C>T
ENST00000311907.9:c.560-172C>T	ENSP00000308541.5:n.560-172C>T
ENST00000442468.1:c.530-172C>T	ENSP00000387413.1:n.530-172C>T
ENST00000490274.1:n.340-172C>T
ENST00000530231.5:c.560-172C>T	ENSP00000433907.1:n.560-172C>T
NM_000506.3:c.560-172C>T	NP_000497.1:n.560-172C>T
NM_000506.4:c.560-172C>T , LRG_551t1:c.560-172C>T	NP_000497.1:n.560-172C>T
NM_001311257.1:c.512-172C>T	NP_001298186.1:n.512-172C>T
XR_428840.2:n.604-172C>T
XR_428840.4:n.595-172C>T
NM_000506.5:c.560-172C>T MANE Select	NP_000497.1:n.560-172C>T
NM_001311257.2:c.512-172C>T	NP_001298186.1:n.512-172C>T