Canonical Allele Identifier: CA7372609

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104707882G>A , CM000676.2:g.104707882G>A	GRCh38
NC_000014.8:g.105174219G>A , CM000676.1:g.105174219G>A	GRCh37
NC_000014.7:g.104245264G>A	NCBI36
NG_027684.1:g.23277G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.1615G>A MANE Select	NP_071934.3:p.Val539Met
ENST00000392634.9:c.1615G>A MANE Select	ENSP00000376410.4:p.Val539Met
NM_001031714.3:c.1615G>A	NP_001026884.3:p.Val539Met
NM_001031714.4:c.1615G>A	NP_001026884.3:p.Val539Met
NM_022489.3:c.1615G>A	NP_071934.3:p.Val539Met
ENST00000252527.8:c.19G>A	ENSP00000252527.8:p.Val7Met
ENST00000330634.11:c.1615G>A	ENSP00000376406.3:p.Val539Met
ENST00000392634.8:c.1615G>A	ENSP00000376410.4:p.Val539Met
ENST00000617571.4:c.-2509G>A	ENSP00000483829.1:n.-2509G>A
ENST00000617571.5:c.1615G>A	ENSP00000483829.2:p.Val539Met
ENST00000674520.1:c.1615G>A	ENSP00000502593.1:p.Val539Met
ENST00000674602.1:c.630G>A
ENST00000674662.1:c.1615G>A	ENSP00000501895.1:p.Val539Met
ENST00000674757.1:c.1615G>A	ENSP00000502202.1:p.Val539Met
ENST00000674822.1:c.1499G>A	ENSP00000501552.1:n.1499G>A
ENST00000674846.1:c.1615G>A	ENSP00000502431.1:p.Val539Met
ENST00000674857.1:c.1604G>A	ENSP00000501687.1:n.1604G>A
ENST00000674960.1:c.1473G>A	ENSP00000501841.1:n.1473G>A
ENST00000674991.1:c.986-554G>A	ENSP00000502004.1:n.986-554G>A
ENST00000674994.1:c.1581G>A	ENSP00000502442.1:n.1581G>A
ENST00000675207.1:c.1711G>A	ENSP00000502644.1:p.Val571Met
ENST00000675329.1:c.1591G>A	ENSP00000502287.1:p.Val531Met
ENST00000675481.1:c.1615G>A	ENSP00000502723.1:p.Val539Met
ENST00000675583.1:c.1615G>A	ENSP00000501740.1:p.Val539Met
ENST00000675638.1:c.1615G>A	ENSP00000501647.1:p.Val539Met
ENST00000675724.1:c.1615G>A	ENSP00000502576.1:p.Val539Met
ENST00000675771.1:c.878G>A	ENSP00000502104.1:p.Arg293His
ENST00000675797.1:c.1020G>A	ENSP00000502023.1:p.Ser340=
ENST00000675809.1:c.1615G>A	ENSP00000502587.1:p.Val539Met
ENST00000675930.1:c.1615G>A	ENSP00000502456.1:p.Val539Met
ENST00000675980.1:c.1615G>A	ENSP00000502520.1:p.Val539Met
ENST00000676016.1:c.1615G>A	ENSP00000502412.1:p.Val539Met
ENST00000676366.1:c.1615G>A	ENSP00000501605.1:p.Val539Met
XM_005268004.3:c.1711G>A	XP_005268061.1:p.Val571Met
XM_005268004.4:c.1711G>A	XP_005268061.1:p.Val571Met
XM_005268005.3:c.1711G>A	XP_005268062.1:p.Val571Met
XM_005268005.4:c.1711G>A	XP_005268062.1:p.Val571Met
XM_017021595.1:c.1711G>A	XP_016877084.1:p.Val571Met
XR_001750518.1:n.1816G>A
XR_943507.1:n.1840G>A