Canonical Allele Identifier: CA380266425

Gene: F2

Linked Data

• gnomAD v4: 11-46726507-T-G
• MyVariant Identifiers: chr11:g.46748057T>G (hg19) ; chr11:g.46726507T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726507T>G , CM000673.2:g.46726507T>G	GRCh38
NC_000011.9:g.46748057T>G , CM000673.1:g.46748057T>G	GRCh37
NC_000011.8:g.46704633T>G	NCBI36
NG_008953.1:g.12315T>G , LRG_551:g.12315T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.884T>G MANE Select	ENSP00000308541.5:p.Val295Gly
ENST00000311907.9:c.884T>G	ENSP00000308541.5:p.Val295Gly
ENST00000442468.1:c.854T>G	ENSP00000387413.1:p.Val285Gly
ENST00000530231.5:c.884T>G	ENSP00000433907.1:p.Val295Gly
NM_000506.3:c.884T>G	NP_000497.1:p.Val295Gly
NM_000506.4:c.884T>G , LRG_551t1:c.884T>G	NP_000497.1:p.Val295Gly
NM_001311257.1:c.836T>G	NP_001298186.1:p.Val279Gly
XR_428840.2:n.928T>G
XR_428840.4:n.919T>G
NM_000506.5:c.884T>G MANE Select	NP_000497.1:p.Val295Gly
NM_001311257.2:c.836T>G	NP_001298186.1:p.Val279Gly