Canonical Allele Identifier: CA380264672

Gene: F2

Linked Data

• MyVariant Identifiers: chr11:g.46747419A>C (hg19) ; chr11:g.46725869A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725869A>C , CM000673.2:g.46725869A>C	GRCh38
NC_000011.9:g.46747419A>C , CM000673.1:g.46747419A>C	GRCh37
NC_000011.8:g.46703995A>C	NCBI36
NG_008953.1:g.11677A>C , LRG_551:g.11677A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.570A>C MANE Select	ENSP00000308541.5:p.Gln190His
ENST00000311907.9:c.570A>C	ENSP00000308541.5:p.Gln190His
ENST00000442468.1:c.540A>C	ENSP00000387413.1:p.Gln180His
ENST00000490274.1:n.350A>C
ENST00000530231.5:c.570A>C	ENSP00000433907.1:p.Gln190His
NM_000506.3:c.570A>C	NP_000497.1:p.Gln190His
NM_000506.4:c.570A>C , LRG_551t1:c.570A>C	NP_000497.1:p.Gln190His
NM_001311257.1:c.522A>C	NP_001298186.1:p.Gln174His
XR_428840.2:n.614A>C
XR_428840.4:n.605A>C
NM_000506.5:c.570A>C MANE Select	NP_000497.1:p.Gln190His
NM_001311257.2:c.522A>C	NP_001298186.1:p.Gln174His