Canonical Allele Identifier: CA7372849

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104710099G>A , CM000676.2:g.104710099G>A	GRCh38
NC_000014.8:g.105176436G>A , CM000676.1:g.105176436G>A	GRCh37
NC_000014.7:g.104247481G>A	NCBI36
NG_027684.1:g.25494G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2150G>A MANE Select	NP_071934.3:p.Arg717Gln
ENST00000392634.9:c.2150G>A MANE Select	ENSP00000376410.4:p.Arg717Gln
NM_001031714.3:c.2150G>A	NP_001026884.3:p.Arg717Gln
NM_001031714.4:c.2150G>A	NP_001026884.3:p.Arg717Gln
NM_022489.3:c.2150G>A	NP_071934.3:p.Arg717Gln
ENST00000252527.8:c.554G>A	ENSP00000252527.8:p.Arg185Gln
ENST00000330634.11:c.2150G>A	ENSP00000376406.3:p.Arg717Gln
ENST00000392634.8:c.2150G>A	ENSP00000376410.4:p.Arg717Gln
ENST00000474229.1:n.643G>A
ENST00000617571.4:c.-1974G>A	ENSP00000483829.1:n.-1974G>A
ENST00000617571.5:c.2150G>A	ENSP00000483829.2:p.Arg717Gln
ENST00000674520.1:c.2150G>A	ENSP00000502593.1:p.Arg717Gln
ENST00000674631.1:c.188G>A	ENSP00000502830.1:p.Arg63Gln
ENST00000674662.1:c.2150G>A	ENSP00000501895.1:p.Arg717Gln
ENST00000674757.1:c.2150G>A	ENSP00000502202.1:p.Arg717Gln
ENST00000674822.1:c.2034G>A	ENSP00000501552.1:n.2034G>A
ENST00000674846.1:c.2150G>A	ENSP00000502431.1:p.Arg717Gln
ENST00000674857.1:c.2139G>A	ENSP00000501687.1:n.2139G>A
ENST00000674960.1:c.2008G>A	ENSP00000501841.1:n.2008G>A
ENST00000674991.1:c.1400G>A	ENSP00000502004.1:p.Arg467Gln
ENST00000674994.1:c.2116G>A	ENSP00000502442.1:n.2116G>A
ENST00000675207.1:c.2246G>A	ENSP00000502644.1:p.Arg749Gln
ENST00000675329.1:c.2126G>A	ENSP00000502287.1:p.Arg709Gln
ENST00000675481.1:c.2150G>A	ENSP00000502723.1:p.Arg717Gln
ENST00000675583.1:c.2150G>A	ENSP00000501740.1:p.Arg717Gln
ENST00000675638.1:c.2150G>A	ENSP00000501647.1:p.Arg717Gln
ENST00000675724.1:c.2088G>A	ENSP00000502576.1:n.2088G>A
ENST00000675771.1:c.1413G>A	ENSP00000502104.1:n.1413G>A
ENST00000675797.1:c.1555G>A	ENSP00000502023.1:n.1555G>A
ENST00000675809.1:c.2150G>A	ENSP00000502587.1:p.Arg717Gln
ENST00000675930.1:c.2150G>A	ENSP00000502456.1:p.Arg717Gln
ENST00000675980.1:c.2150G>A	ENSP00000502520.1:p.Arg717Gln
ENST00000676016.1:c.2138+394G>A	ENSP00000502412.1:n.2138+394G>A
ENST00000676366.1:c.2150G>A	ENSP00000501605.1:p.Arg717Gln
XM_005268004.3:c.2246G>A	XP_005268061.1:p.Arg749Gln
XM_005268004.4:c.2246G>A	XP_005268061.1:p.Arg749Gln
XM_005268005.3:c.2246G>A	XP_005268062.1:p.Arg749Gln
XM_005268005.4:c.2246G>A	XP_005268062.1:p.Arg749Gln
XM_017021595.1:c.2246G>A	XP_016877084.1:p.Arg749Gln
XR_001750518.1:n.2351G>A
XR_943507.1:n.2375G>A