Canonical Allele Identifier: CA380264770

Gene: F2

Linked Data

• MyVariant Identifiers: chr11:g.46747459G>C (hg19) ; chr11:g.46725909G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725909G>C , CM000673.2:g.46725909G>C	GRCh38
NC_000011.9:g.46747459G>C , CM000673.1:g.46747459G>C	GRCh37
NC_000011.8:g.46704035G>C	NCBI36
NG_008953.1:g.11717G>C , LRG_551:g.11717G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.610G>C MANE Select	ENSP00000308541.5:p.Val204Leu
ENST00000311907.9:c.610G>C	ENSP00000308541.5:p.Val204Leu
ENST00000442468.1:c.580G>C	ENSP00000387413.1:p.Val194Leu
ENST00000490274.1:n.390G>C
ENST00000530231.5:c.610G>C	ENSP00000433907.1:p.Val204Leu
NM_000506.3:c.610G>C	NP_000497.1:p.Val204Leu
NM_000506.4:c.610G>C , LRG_551t1:c.610G>C	NP_000497.1:p.Val204Leu
NM_001311257.1:c.562G>C	NP_001298186.1:p.Val188Leu
XR_428840.2:n.654G>C
XR_428840.4:n.645G>C
NM_000506.5:c.610G>C MANE Select	NP_000497.1:p.Val204Leu
NM_001311257.2:c.562G>C	NP_001298186.1:p.Val188Leu