Canonical Allele Identifier: CA380269841

Gene: F2

Linked Data

• MyVariant Identifiers: chr11:g.46749658A>C (hg19) ; chr11:g.46728108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728108A>C , CM000673.2:g.46728108A>C	GRCh38
NC_000011.9:g.46749658A>C , CM000673.1:g.46749658A>C	GRCh37
NC_000011.8:g.46706234A>C	NCBI36
NG_008953.1:g.13916A>C , LRG_551:g.13916A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1243A>C MANE Select	ENSP00000308541.5:p.Lys415Gln
ENST00000311907.9:c.1243A>C	ENSP00000308541.5:p.Lys415Gln
ENST00000530231.5:c.1243A>C	ENSP00000433907.1:p.Lys415Gln
NM_000506.3:c.1243A>C	NP_000497.1:p.Lys415Gln
NM_000506.4:c.1243A>C , LRG_551t1:c.1243A>C	NP_000497.1:p.Lys415Gln
NM_001311257.1:c.1195A>C	NP_001298186.1:p.Lys399Gln
XR_428840.2:n.1287A>C
XR_428840.4:n.1278A>C
NM_000506.5:c.1243A>C MANE Select	NP_000497.1:p.Lys415Gln
NM_001311257.2:c.1195A>C	NP_001298186.1:p.Lys399Gln