Canonical Allele Identifier: CA129511

Gene: INF2

Linked Data

• ClinVar Variation Id: 30866
• ClinVar RCV Id: RCV000023851 ; RCV001228020
• dbSNP Id: rs387907036
• MyVariant Identifiers: chr14:g.105168014C>G (hg19) ; chr14:g.104701677C>G (hg38)
• PubMed: PMID:6054293 ; PMID:22187985

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104701677C>G , CM000676.2:g.104701677C>G	GRCh38
NC_000014.8:g.105168014C>G , CM000676.1:g.105168014C>G	GRCh37
NC_000014.7:g.104239059C>G	NCBI36
NG_027684.1:g.17072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.312C>G MANE Select	ENSP00000376410.4:p.Cys104Trp
ENST00000617571.5:c.312C>G	ENSP00000483829.2:p.Cys104Trp
ENST00000674520.1:c.312C>G	ENSP00000502593.1:p.Cys104Trp
ENST00000674662.1:c.312C>G	ENSP00000501895.1:p.Cys104Trp
ENST00000674723.1:c.312C>G	ENSP00000502257.1:p.Cys104Trp
ENST00000674757.1:c.312C>G	ENSP00000502202.1:p.Cys104Trp
ENST00000674822.1:c.312C>G	ENSP00000501552.1:p.Cys104Trp
ENST00000674846.1:c.312C>G	ENSP00000502431.1:p.Cys104Trp
ENST00000674857.1:c.312C>G	ENSP00000501687.1:p.Cys104Trp
ENST00000674869.1:c.312C>G	ENSP00000501558.1:p.Cys104Trp
ENST00000674960.1:c.312C>G	ENSP00000501841.1:p.Cys104Trp
ENST00000674966.1:n.780C>G
ENST00000674991.1:c.312C>G	ENSP00000502004.1:p.Cys104Trp
ENST00000674994.1:c.312C>G	ENSP00000502442.1:p.Cys104Trp
ENST00000675207.1:c.408C>G	ENSP00000502644.1:p.Cys136Trp
ENST00000675313.1:n.353C>G
ENST00000675329.1:c.312C>G	ENSP00000502287.1:p.Cys104Trp
ENST00000675481.1:c.312C>G	ENSP00000502723.1:p.Cys104Trp
ENST00000675482.1:c.312C>G	ENSP00000501798.1:p.Cys104Trp
ENST00000675583.1:c.312C>G	ENSP00000501740.1:p.Cys104Trp
ENST00000675616.1:n.352C>G
ENST00000675638.1:c.312C>G	ENSP00000501647.1:p.Cys104Trp
ENST00000675724.1:c.312C>G	ENSP00000502576.1:p.Cys104Trp
ENST00000675771.1:c.312C>G	ENSP00000502104.1:p.Cys104Trp
ENST00000675797.1:c.312C>G	ENSP00000502023.1:p.Cys104Trp
ENST00000675809.1:c.312C>G	ENSP00000502587.1:p.Cys104Trp
ENST00000675930.1:c.312C>G	ENSP00000502456.1:p.Cys104Trp
ENST00000675980.1:c.312C>G	ENSP00000502520.1:p.Cys104Trp
ENST00000676016.1:c.312C>G	ENSP00000502412.1:p.Cys104Trp
ENST00000676100.1:n.449C>G
ENST00000676366.1:c.312C>G	ENSP00000501605.1:p.Cys104Trp
ENST00000676427.1:c.312C>G	ENSP00000502106.1:p.Cys104Trp
ENST00000330634.11:c.312C>G	ENSP00000376406.3:p.Cys104Trp
ENST00000392634.8:c.312C>G	ENSP00000376410.4:p.Cys104Trp
ENST00000398337.8:c.312C>G	ENSP00000381380.4:p.Cys104Trp
NM_001031714.3:c.312C>G	NP_001026884.3:p.Cys104Trp
NM_022489.3:c.312C>G	NP_071934.3:p.Cys104Trp
NM_032714.2:c.312C>G	NP_116103.1:p.Cys104Trp
XM_005268004.3:c.408C>G	XP_005268061.1:p.Cys136Trp
XM_005268005.3:c.408C>G	XP_005268062.1:p.Cys136Trp
XR_943507.1:n.537C>G
XM_005268004.4:c.408C>G	XP_005268061.1:p.Cys136Trp
XM_005268005.4:c.408C>G	XP_005268062.1:p.Cys136Trp
XM_017021595.1:c.408C>G	XP_016877084.1:p.Cys136Trp
XR_001750518.1:n.513C>G
NM_001031714.4:c.312C>G	NP_001026884.3:p.Cys104Trp
NM_022489.4:c.312C>G MANE Select	NP_071934.3:p.Cys104Trp
NM_032714.3:c.312C>G	NP_116103.1:p.Cys104Trp