Canonical Allele Identifier: CA7372613

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104707914A>G , CM000676.2:g.104707914A>G	GRCh38
NC_000014.8:g.105174251A>G , CM000676.1:g.105174251A>G	GRCh37
NC_000014.7:g.104245296A>G	NCBI36
NG_027684.1:g.23309A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.1647A>G MANE Select	ENSP00000376410.4:p.Ala549=
ENST00000617571.5:c.1647A>G	ENSP00000483829.2:p.Ala549=
ENST00000674520.1:c.1647A>G	ENSP00000502593.1:p.Ala549=
ENST00000674602.1:c.662A>G
ENST00000674662.1:c.1647A>G	ENSP00000501895.1:p.Ala549=
ENST00000674757.1:c.1647A>G	ENSP00000502202.1:p.Ala549=
ENST00000674822.1:c.1531A>G	ENSP00000501552.1:n.1531A>G
ENST00000674846.1:c.1647A>G	ENSP00000502431.1:p.Ala549=
ENST00000674857.1:c.1636A>G	ENSP00000501687.1:n.1636A>G
ENST00000674960.1:c.1505A>G	ENSP00000501841.1:n.1505A>G
ENST00000674991.1:c.986-522A>G	ENSP00000502004.1:n.986-522A>G
ENST00000674994.1:c.1613A>G	ENSP00000502442.1:n.1613A>G
ENST00000675207.1:c.1743A>G	ENSP00000502644.1:p.Ala581=
ENST00000675329.1:c.1623A>G	ENSP00000502287.1:p.Ala541=
ENST00000675481.1:c.1647A>G	ENSP00000502723.1:p.Ala549=
ENST00000675583.1:c.1647A>G	ENSP00000501740.1:p.Ala549=
ENST00000675638.1:c.1647A>G	ENSP00000501647.1:p.Ala549=
ENST00000675724.1:c.1647A>G	ENSP00000502576.1:p.Ala549=
ENST00000675771.1:c.910A>G	ENSP00000502104.1:p.Met304Val
ENST00000675797.1:c.1052A>G	ENSP00000502023.1:p.His351Arg
ENST00000675809.1:c.1647A>G	ENSP00000502587.1:p.Ala549=
ENST00000675930.1:c.1647A>G	ENSP00000502456.1:p.Ala549=
ENST00000675980.1:c.1647A>G	ENSP00000502520.1:p.Ala549=
ENST00000676016.1:c.1647A>G	ENSP00000502412.1:p.Ala549=
ENST00000676366.1:c.1647A>G	ENSP00000501605.1:p.Ala549=
ENST00000252527.8:c.51A>G	ENSP00000252527.8:p.Ala17=
ENST00000330634.11:c.1647A>G	ENSP00000376406.3:p.Ala549=
ENST00000392634.8:c.1647A>G	ENSP00000376410.4:p.Ala549=
ENST00000617571.4:c.-2477A>G	ENSP00000483829.1:n.-2477A>G
NM_001031714.3:c.1647A>G	NP_001026884.3:p.Ala549=
NM_022489.3:c.1647A>G	NP_071934.3:p.Ala549=
XM_005268004.3:c.1743A>G	XP_005268061.1:p.Ala581=
XM_005268005.3:c.1743A>G	XP_005268062.1:p.Ala581=
XR_943507.1:n.1872A>G
XM_005268004.4:c.1743A>G	XP_005268061.1:p.Ala581=
XM_005268005.4:c.1743A>G	XP_005268062.1:p.Ala581=
XM_017021595.1:c.1743A>G	XP_016877084.1:p.Ala581=
XR_001750518.1:n.1848A>G
NM_001031714.4:c.1647A>G	NP_001026884.3:p.Ala549=
NM_022489.4:c.1647A>G MANE Select	NP_071934.3:p.Ala549=