Canonical Allele Identifier: CA129509

Gene: INF2

Linked Data

• ClinVar Variation Id: 30864
• ClinVar RCV Id: RCV000023849 ; RCV003488347 ; RCV003764633
• dbSNP Id: rs387907034
• MyVariant Identifiers: chr14:g.105168012T>C (hg19) ; chr14:g.104701675T>C (hg38)
• PubMed: PMID:22187985

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104701675T>C , CM000676.2:g.104701675T>C	GRCh38
NC_000014.8:g.105168012T>C , CM000676.1:g.105168012T>C	GRCh37
NC_000014.7:g.104239057T>C	NCBI36
NG_027684.1:g.17070T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.310T>C MANE Select	ENSP00000376410.4:p.Cys104Arg
ENST00000617571.5:c.310T>C	ENSP00000483829.2:p.Cys104Arg
ENST00000674520.1:c.310T>C	ENSP00000502593.1:p.Cys104Arg
ENST00000674662.1:c.310T>C	ENSP00000501895.1:p.Cys104Arg
ENST00000674723.1:c.310T>C	ENSP00000502257.1:p.Cys104Arg
ENST00000674757.1:c.310T>C	ENSP00000502202.1:p.Cys104Arg
ENST00000674822.1:c.310T>C	ENSP00000501552.1:p.Cys104Arg
ENST00000674846.1:c.310T>C	ENSP00000502431.1:p.Cys104Arg
ENST00000674857.1:c.310T>C	ENSP00000501687.1:p.Cys104Arg
ENST00000674869.1:c.310T>C	ENSP00000501558.1:p.Cys104Arg
ENST00000674960.1:c.310T>C	ENSP00000501841.1:p.Cys104Arg
ENST00000674966.1:n.778T>C
ENST00000674991.1:c.310T>C	ENSP00000502004.1:p.Cys104Arg
ENST00000674994.1:c.310T>C	ENSP00000502442.1:p.Cys104Arg
ENST00000675207.1:c.406T>C	ENSP00000502644.1:p.Cys136Arg
ENST00000675313.1:n.351T>C
ENST00000675329.1:c.310T>C	ENSP00000502287.1:p.Cys104Arg
ENST00000675481.1:c.310T>C	ENSP00000502723.1:p.Cys104Arg
ENST00000675482.1:c.310T>C	ENSP00000501798.1:p.Cys104Arg
ENST00000675583.1:c.310T>C	ENSP00000501740.1:p.Cys104Arg
ENST00000675616.1:n.350T>C
ENST00000675638.1:c.310T>C	ENSP00000501647.1:p.Cys104Arg
ENST00000675724.1:c.310T>C	ENSP00000502576.1:p.Cys104Arg
ENST00000675771.1:c.310T>C	ENSP00000502104.1:p.Cys104Arg
ENST00000675797.1:c.310T>C	ENSP00000502023.1:p.Cys104Arg
ENST00000675809.1:c.310T>C	ENSP00000502587.1:p.Cys104Arg
ENST00000675930.1:c.310T>C	ENSP00000502456.1:p.Cys104Arg
ENST00000675980.1:c.310T>C	ENSP00000502520.1:p.Cys104Arg
ENST00000676016.1:c.310T>C	ENSP00000502412.1:p.Cys104Arg
ENST00000676100.1:n.447T>C
ENST00000676366.1:c.310T>C	ENSP00000501605.1:p.Cys104Arg
ENST00000676427.1:c.310T>C	ENSP00000502106.1:p.Cys104Arg
ENST00000330634.11:c.310T>C	ENSP00000376406.3:p.Cys104Arg
ENST00000392634.8:c.310T>C	ENSP00000376410.4:p.Cys104Arg
ENST00000398337.8:c.310T>C	ENSP00000381380.4:p.Cys104Arg
NM_001031714.3:c.310T>C	NP_001026884.3:p.Cys104Arg
NM_022489.3:c.310T>C	NP_071934.3:p.Cys104Arg
NM_032714.2:c.310T>C	NP_116103.1:p.Cys104Arg
XM_005268004.3:c.406T>C	XP_005268061.1:p.Cys136Arg
XM_005268005.3:c.406T>C	XP_005268062.1:p.Cys136Arg
XR_943507.1:n.535T>C
XM_005268004.4:c.406T>C	XP_005268061.1:p.Cys136Arg
XM_005268005.4:c.406T>C	XP_005268062.1:p.Cys136Arg
XM_017021595.1:c.406T>C	XP_016877084.1:p.Cys136Arg
XR_001750518.1:n.511T>C
NM_001031714.4:c.310T>C	NP_001026884.3:p.Cys104Arg
NM_022489.4:c.310T>C MANE Select	NP_071934.3:p.Cys104Arg
NM_032714.3:c.310T>C	NP_116103.1:p.Cys104Arg