Canonical Allele Identifier: CA7372515

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104707406A>G , CM000676.2:g.104707406A>G	GRCh38
NC_000014.8:g.105173743A>G , CM000676.1:g.105173743A>G	GRCh37
NC_000014.7:g.104244788A>G	NCBI36
NG_027684.1:g.22801A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.1139A>G MANE Select	NP_071934.3:p.Lys380Arg
ENST00000392634.9:c.1139A>G MANE Select	ENSP00000376410.4:p.Lys380Arg
NM_001031714.3:c.1139A>G	NP_001026884.3:p.Lys380Arg
NM_001031714.4:c.1139A>G	NP_001026884.3:p.Lys380Arg
NM_022489.3:c.1139A>G	NP_071934.3:p.Lys380Arg
ENST00000330634.11:c.1139A>G	ENSP00000376406.3:p.Lys380Arg
ENST00000392634.8:c.1139A>G	ENSP00000376410.4:p.Lys380Arg
ENST00000617571.5:c.1139A>G	ENSP00000483829.2:p.Lys380Arg
ENST00000674520.1:c.1139A>G	ENSP00000502593.1:p.Lys380Arg
ENST00000674602.1:c.154A>G
ENST00000674662.1:c.1139A>G	ENSP00000501895.1:p.Lys380Arg
ENST00000674757.1:c.1139A>G	ENSP00000502202.1:p.Lys380Arg
ENST00000674822.1:c.1023A>G	ENSP00000501552.1:n.1023A>G
ENST00000674846.1:c.1139A>G	ENSP00000502431.1:p.Lys380Arg
ENST00000674857.1:c.1128A>G	ENSP00000501687.1:n.1128A>G
ENST00000674960.1:c.997A>G	ENSP00000501841.1:n.997A>G
ENST00000674991.1:c.985+355A>G	ENSP00000502004.1:n.985+355A>G
ENST00000674994.1:c.1105A>G	ENSP00000502442.1:n.1105A>G
ENST00000675207.1:c.1235A>G	ENSP00000502644.1:p.Lys412Arg
ENST00000675329.1:c.1115A>G	ENSP00000502287.1:p.Lys372Arg
ENST00000675481.1:c.1139A>G	ENSP00000502723.1:p.Lys380Arg
ENST00000675583.1:c.1139A>G	ENSP00000501740.1:p.Lys380Arg
ENST00000675638.1:c.1139A>G	ENSP00000501647.1:p.Lys380Arg
ENST00000675724.1:c.1139A>G	ENSP00000502576.1:p.Lys380Arg
ENST00000675771.1:c.844-442A>G	ENSP00000502104.1:n.844-442A>G
ENST00000675797.1:c.985+355A>G	ENSP00000502023.1:n.985+355A>G
ENST00000675809.1:c.1139A>G	ENSP00000502587.1:p.Lys380Arg
ENST00000675930.1:c.1139A>G	ENSP00000502456.1:p.Lys380Arg
ENST00000675980.1:c.1139A>G	ENSP00000502520.1:p.Lys380Arg
ENST00000676016.1:c.1139A>G	ENSP00000502412.1:p.Lys380Arg
ENST00000676366.1:c.1139A>G	ENSP00000501605.1:p.Lys380Arg
XM_005268004.3:c.1235A>G	XP_005268061.1:p.Lys412Arg
XM_005268004.4:c.1235A>G	XP_005268061.1:p.Lys412Arg
XM_005268005.3:c.1235A>G	XP_005268062.1:p.Lys412Arg
XM_005268005.4:c.1235A>G	XP_005268062.1:p.Lys412Arg
XM_017021595.1:c.1235A>G	XP_016877084.1:p.Lys412Arg
XR_001750518.1:n.1340A>G
XR_943507.1:n.1364A>G