Canonical Allele Identifier: CA7372991

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104712545C>T , CM000676.2:g.104712545C>T	GRCh38
NC_000014.8:g.105178882C>T , CM000676.1:g.105178882C>T	GRCh37
NC_000014.7:g.104249927C>T	NCBI36
NG_027684.1:g.27940C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2602C>T MANE Select	NP_071934.3:p.Arg868Cys
ENST00000392634.9:c.2602C>T MANE Select	ENSP00000376410.4:p.Arg868Cys
NM_001031714.3:c.2602C>T	NP_001026884.3:p.Arg868Cys
NM_001031714.4:c.2602C>T	NP_001026884.3:p.Arg868Cys
NM_022489.3:c.2602C>T	NP_071934.3:p.Arg868Cys
ENST00000252527.8:c.1006C>T	ENSP00000252527.8:p.Arg336Cys
ENST00000330634.11:c.2602C>T	ENSP00000376406.3:p.Arg868Cys
ENST00000392634.8:c.2602C>T	ENSP00000376410.4:p.Arg868Cys
ENST00000480763.2:n.467C>T
ENST00000617571.4:c.-1532C>T	ENSP00000483829.1:n.-1532C>T
ENST00000617571.5:c.2602C>T	ENSP00000483829.2:p.Arg868Cys
ENST00000674520.1:c.2602C>T	ENSP00000502593.1:p.Arg868Cys
ENST00000674631.1:c.640C>T	ENSP00000502830.1:p.Arg214Cys
ENST00000674662.1:c.2606C>T	ENSP00000501895.1:n.2606C>T
ENST00000674757.1:c.2602C>T	ENSP00000502202.1:p.Arg868Cys
ENST00000674822.1:c.2486C>T	ENSP00000501552.1:n.2486C>T
ENST00000674846.1:c.2597C>T	ENSP00000502431.1:n.2597C>T
ENST00000674857.1:c.2591C>T	ENSP00000501687.1:n.2591C>T
ENST00000674960.1:c.2460C>T	ENSP00000501841.1:n.2460C>T
ENST00000674991.1:c.1852C>T	ENSP00000502004.1:p.Arg618Cys
ENST00000674994.1:c.2568C>T	ENSP00000502442.1:n.2568C>T
ENST00000675207.1:c.2698C>T	ENSP00000502644.1:p.Arg900Cys
ENST00000675329.1:c.2578C>T	ENSP00000502287.1:p.Arg860Cys
ENST00000675481.1:c.2602C>T	ENSP00000502723.1:p.Arg868Cys
ENST00000675557.1:n.381C>T
ENST00000675583.1:c.2531C>T	ENSP00000501740.1:n.2531C>T
ENST00000675638.1:c.2602C>T	ENSP00000501647.1:p.Arg868Cys
ENST00000675724.1:c.2540C>T	ENSP00000502576.1:n.2540C>T
ENST00000675771.1:c.1865C>T	ENSP00000502104.1:n.1865C>T
ENST00000675797.1:c.2007C>T	ENSP00000502023.1:n.2007C>T
ENST00000675809.1:c.2657C>T	ENSP00000502587.1:n.2657C>T
ENST00000675930.1:c.2602C>T	ENSP00000502456.1:p.Arg868Cys
ENST00000675980.1:c.2620C>T	ENSP00000502520.1:p.Arg874Cys
ENST00000676016.1:c.2501C>T	ENSP00000502412.1:n.2501C>T
ENST00000676366.1:c.2602C>T	ENSP00000501605.1:p.Arg868Cys
XM_005268004.3:c.2698C>T	XP_005268061.1:p.Arg900Cys
XM_005268004.4:c.2698C>T	XP_005268061.1:p.Arg900Cys
XM_005268005.3:c.2698C>T	XP_005268062.1:p.Arg900Cys
XM_005268005.4:c.2698C>T	XP_005268062.1:p.Arg900Cys
XM_017021595.1:c.2698C>T	XP_016877084.1:p.Arg900Cys
XR_943507.1:n.2827C>T