Canonical Allele Identifier: CA353997

Gene: FHL2

Linked Data

• ClinVar Variation Id: 222639
• ClinVar RCV Id: RCV000208406
• dbSNP Id: rs869025433
• MyVariant Identifiers: chr2:g.105977865A>C (hg19) ; chr2:g.105361408A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.105361408A>C , CM000664.2:g.105361408A>C	GRCh38
NC_000002.11:g.105977865A>C , CM000664.1:g.105977865A>C	GRCh37
NC_000002.10:g.105344297A>C	NCBI36
NG_008844.2:g.82366T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322142.13:c.715T>G	ENSP00000322909.8:p.Phe239Val
ENST00000344213.9:c.715T>G	ENSP00000344266.5:p.Phe239Val
ENST00000409177.6:c.715T>G	ENSP00000386892.3:p.Phe239Val
ENST00000530340.6:c.715T>G MANE Select	ENSP00000433567.2:p.Phe239Val
ENST00000322142.12:c.715T>G	ENSP00000322909.8:p.Phe239Val
ENST00000344213.8:c.1045T>G	ENSP00000344266.4:p.Phe349Val
ENST00000358129.8:c.*84T>G	ENSP00000350846.5:n.*84T>G
ENST00000393352.7:c.715T>G	ENSP00000377020.3:p.Phe239Val
ENST00000393353.7:c.715T>G	ENSP00000377021.3:p.Phe239Val
ENST00000408995.5:c.715T>G	ENSP00000386633.1:p.Phe239Val
ENST00000409177.5:c.1063T>G	ENSP00000386892.2:p.Phe355Val
ENST00000409807.5:c.715T>G	ENSP00000386665.1:p.Phe239Val
ENST00000530340.5:c.*731T>G	ENSP00000433567.1:n.*731T>G
NM_001039492.2:c.715T>G	NP_001034581.1:p.Phe239Val
NM_001450.3:c.715T>G	NP_001441.4:p.Phe239Val
NM_201555.1:c.715T>G	NP_963849.1:p.Phe239Val
NM_201557.3:c.715T>G	NP_963851.2:p.Phe239Val
XM_005263902.1:c.1045T>G	XP_005263959.1:p.Phe349Val
XM_005263906.1:c.715T>G	XP_005263963.1:p.Phe239Val
XM_011510798.1:c.715T>G	XP_011509100.1:p.Phe239Val
NM_001318894.1:c.715T>G	NP_001305823.1:p.Phe239Val
NM_001318895.1:c.715T>G	NP_001305824.1:p.Phe239Val
NM_001318896.1:c.715T>G	NP_001305825.1:p.Phe239Val
NM_001318897.1:c.373T>G	NP_001305826.1:p.Phe125Val
NM_001318898.1:c.373T>G	NP_001305827.1:p.Phe125Val
NM_001318899.1:c.391T>G	NP_001305828.1:p.Phe131Val
XM_011510798.2:c.715T>G	XP_011509100.1:p.Phe239Val
NM_001039492.3:c.715T>G	NP_001034581.1:p.Phe239Val
NM_001318895.3:c.715T>G MANE Select	NP_001305824.1:p.Phe239Val
NM_001318896.2:c.715T>G	NP_001305825.1:p.Phe239Val
NM_001318897.2:c.373T>G	NP_001305826.1:p.Phe125Val
NM_001318898.2:c.373T>G	NP_001305827.1:p.Phe125Val
NM_001318899.2:c.391T>G	NP_001305828.1:p.Phe131Val
NM_001374399.1:c.715T>G	NP_001361328.1:p.Phe239Val
NM_001450.4:c.715T>G	NP_001441.4:p.Phe239Val
NM_201555.2:c.715T>G	NP_963849.1:p.Phe239Val
NM_201557.4:c.715T>G	NP_963851.2:p.Phe239Val
NM_201555.3:c.715T>G	NP_963849.1:p.Phe239Val
NM_201557.5:c.715T>G	NP_963851.2:p.Phe239Val