Canonical Allele Identifier: CA391225336

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714745G>A , CM000676.2:g.104714745G>A	GRCh38
NC_000014.8:g.105181082G>A , CM000676.1:g.105181082G>A	GRCh37
NC_000014.7:g.104252127G>A	NCBI36
NG_027684.1:g.30140G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3583G>A MANE Select	NP_071934.3:p.Glu1195Lys
ENST00000392634.9:c.3583G>A MANE Select	ENSP00000376410.4:p.Glu1195Lys
NM_001031714.3:c.3583G>A	NP_001026884.3:p.Glu1195Lys
NM_001031714.4:c.3583G>A	NP_001026884.3:p.Glu1195Lys
NM_022489.3:c.3583G>A	NP_071934.3:p.Glu1195Lys
ENST00000252527.8:c.1987G>A	ENSP00000252527.8:p.Glu663Lys
ENST00000330634.11:c.3583G>A	ENSP00000376406.3:p.Glu1195Lys
ENST00000392634.8:c.3583G>A	ENSP00000376410.4:p.Glu1195Lys
ENST00000617571.4:c.-551G>A	ENSP00000483829.1:n.-551G>A
ENST00000617571.5:c.3579G>A	ENSP00000483829.2:n.3579G>A
ENST00000674520.1:c.3578G>A	ENSP00000502593.1:n.3578G>A
ENST00000674631.1:c.1621G>A	ENSP00000502830.1:p.Glu541Lys
ENST00000674662.1:c.3587G>A	ENSP00000501895.1:n.3587G>A
ENST00000674757.1:c.3588G>A	ENSP00000502202.1:n.3588G>A
ENST00000674822.1:c.3467G>A	ENSP00000501552.1:n.3467G>A
ENST00000674846.1:c.3578G>A	ENSP00000502431.1:n.3578G>A
ENST00000674857.1:c.3572G>A	ENSP00000501687.1:n.3572G>A
ENST00000674960.1:c.3441G>A	ENSP00000501841.1:n.3441G>A
ENST00000674991.1:c.2833G>A	ENSP00000502004.1:p.Glu945Lys
ENST00000675207.1:c.3679G>A	ENSP00000502644.1:p.Glu1227Lys
ENST00000675329.1:c.3559G>A	ENSP00000502287.1:p.Glu1187Lys
ENST00000675481.1:c.3583G>A	ENSP00000502723.1:p.Glu1195Lys
ENST00000675583.1:c.3512G>A	ENSP00000501740.1:n.3512G>A
ENST00000675603.1:n.823G>A
ENST00000675638.1:c.3502G>A	ENSP00000501647.1:p.Glu1168Lys
ENST00000675724.1:c.3521G>A	ENSP00000502576.1:n.3521G>A
ENST00000675771.1:c.2846G>A	ENSP00000502104.1:n.2846G>A
ENST00000675797.1:c.2988G>A	ENSP00000502023.1:n.2988G>A
ENST00000675809.1:c.3638G>A	ENSP00000502587.1:n.3638G>A
ENST00000675930.1:c.3471G>A	ENSP00000502456.1:p.Pro1157=
ENST00000675980.1:c.3601G>A	ENSP00000502520.1:p.Glu1201Lys
ENST00000676016.1:c.3482G>A	ENSP00000502412.1:n.3482G>A
ENST00000676366.1:c.3390G>A	ENSP00000501605.1:p.Pro1130=
XM_005268004.3:c.3679G>A	XP_005268061.1:p.Glu1227Lys
XM_005268004.4:c.3679G>A	XP_005268061.1:p.Glu1227Lys
XM_005268005.3:c.3679G>A	XP_005268062.1:p.Glu1227Lys
XM_005268005.4:c.3679G>A	XP_005268062.1:p.Glu1227Lys
XM_017021595.1:c.3679G>A	XP_016877084.1:p.Glu1227Lys
XR_943507.1:n.3808G>A