Canonical Allele Identifier: CA380265042

Gene: F2

Linked Data

• MyVariant Identifiers: chr11:g.46747538A>C (hg19) ; chr11:g.46725988A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725988A>C , CM000673.2:g.46725988A>C	GRCh38
NC_000011.9:g.46747538A>C , CM000673.1:g.46747538A>C	GRCh37
NC_000011.8:g.46704114A>C	NCBI36
NG_008953.1:g.11796A>C , LRG_551:g.11796A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.689A>C MANE Select	ENSP00000308541.5:p.His230Pro
ENST00000311907.9:c.689A>C	ENSP00000308541.5:p.His230Pro
ENST00000442468.1:c.659A>C	ENSP00000387413.1:p.His220Pro
ENST00000490274.1:n.469A>C
ENST00000530231.5:c.689A>C	ENSP00000433907.1:p.His230Pro
NM_000506.3:c.689A>C	NP_000497.1:p.His230Pro
NM_000506.4:c.689A>C , LRG_551t1:c.689A>C	NP_000497.1:p.His230Pro
NM_001311257.1:c.641A>C	NP_001298186.1:p.His214Pro
XR_428840.2:n.733A>C
XR_428840.4:n.724A>C
NM_000506.5:c.689A>C MANE Select	NP_000497.1:p.His230Pro
NM_001311257.2:c.641A>C	NP_001298186.1:p.His214Pro