Canonical Allele Identifier: CA267330080

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104713288C>T , CM000676.2:g.104713288C>T	GRCh38
NC_000014.8:g.105179625C>T , CM000676.1:g.105179625C>T	GRCh37
NC_000014.7:g.104250670C>T	NCBI36
NG_027684.1:g.28683C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2857C>T MANE Select	NP_071934.3:p.Arg953Trp
ENST00000392634.9:c.2857C>T MANE Select	ENSP00000376410.4:p.Arg953Trp
NM_001031714.3:c.2857C>T	NP_001026884.3:p.Arg953Trp
NM_001031714.4:c.2857C>T	NP_001026884.3:p.Arg953Trp
NM_022489.3:c.2857C>T	NP_071934.3:p.Arg953Trp
ENST00000252527.8:c.1261C>T	ENSP00000252527.8:p.Arg421Trp
ENST00000330634.11:c.2857C>T	ENSP00000376406.3:p.Arg953Trp
ENST00000392634.8:c.2857C>T	ENSP00000376410.4:p.Arg953Trp
ENST00000477497.1:n.362C>T
ENST00000617571.4:c.-1277C>T	ENSP00000483829.1:n.-1277C>T
ENST00000617571.5:c.2857C>T	ENSP00000483829.2:p.Arg953Trp
ENST00000674520.1:c.2852C>T	ENSP00000502593.1:n.2852C>T
ENST00000674631.1:c.895C>T	ENSP00000502830.1:p.Arg299Trp
ENST00000674662.1:c.2861C>T	ENSP00000501895.1:n.2861C>T
ENST00000674757.1:c.2862C>T	ENSP00000502202.1:p.Leu954=
ENST00000674822.1:c.2741C>T	ENSP00000501552.1:n.2741C>T
ENST00000674846.1:c.2852C>T	ENSP00000502431.1:n.2852C>T
ENST00000674857.1:c.2846C>T	ENSP00000501687.1:n.2846C>T
ENST00000674960.1:c.2715C>T	ENSP00000501841.1:n.2715C>T
ENST00000674991.1:c.2107C>T	ENSP00000502004.1:p.Arg703Trp
ENST00000674994.1:c.2823C>T	ENSP00000502442.1:n.2823C>T
ENST00000675207.1:c.2953C>T	ENSP00000502644.1:p.Arg985Trp
ENST00000675329.1:c.2833C>T	ENSP00000502287.1:p.Arg945Trp
ENST00000675481.1:c.2857C>T	ENSP00000502723.1:p.Arg953Trp
ENST00000675583.1:c.2786C>T	ENSP00000501740.1:n.2786C>T
ENST00000675638.1:c.2857C>T	ENSP00000501647.1:p.Arg953Trp
ENST00000675724.1:c.2795C>T	ENSP00000502576.1:n.2795C>T
ENST00000675771.1:c.2120C>T	ENSP00000502104.1:n.2120C>T
ENST00000675797.1:c.2262C>T	ENSP00000502023.1:n.2262C>T
ENST00000675809.1:c.2912C>T	ENSP00000502587.1:n.2912C>T
ENST00000675930.1:c.2857C>T	ENSP00000502456.1:p.Arg953Trp
ENST00000675980.1:c.2875C>T	ENSP00000502520.1:p.Arg959Trp
ENST00000676016.1:c.2756C>T	ENSP00000502412.1:n.2756C>T
ENST00000676366.1:c.2857C>T	ENSP00000501605.1:p.Arg953Trp
XM_005268004.3:c.2953C>T	XP_005268061.1:p.Arg985Trp
XM_005268004.4:c.2953C>T	XP_005268061.1:p.Arg985Trp
XM_005268005.3:c.2953C>T	XP_005268062.1:p.Arg985Trp
XM_005268005.4:c.2953C>T	XP_005268062.1:p.Arg985Trp
XM_017021595.1:c.2953C>T	XP_016877084.1:p.Arg985Trp
XR_943507.1:n.3082C>T