Canonical Allele Identifier: CA391222640

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104713219C>G , CM000676.2:g.104713219C>G	GRCh38
NC_000014.8:g.105179556C>G , CM000676.1:g.105179556C>G	GRCh37
NC_000014.7:g.104250601C>G	NCBI36
NG_027684.1:g.28614C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2788C>G MANE Select	NP_071934.3:p.Arg930Gly
ENST00000392634.9:c.2788C>G MANE Select	ENSP00000376410.4:p.Arg930Gly
NM_001031714.3:c.2788C>G	NP_001026884.3:p.Arg930Gly
NM_001031714.4:c.2788C>G	NP_001026884.3:p.Arg930Gly
NM_022489.3:c.2788C>G	NP_071934.3:p.Arg930Gly
ENST00000252527.8:c.1192C>G	ENSP00000252527.8:p.Arg398Gly
ENST00000330634.11:c.2788C>G	ENSP00000376406.3:p.Arg930Gly
ENST00000392634.8:c.2788C>G	ENSP00000376410.4:p.Arg930Gly
ENST00000477497.1:n.293C>G
ENST00000617571.4:c.-1346C>G	ENSP00000483829.1:n.-1346C>G
ENST00000617571.5:c.2788C>G	ENSP00000483829.2:p.Arg930Gly
ENST00000674520.1:c.2783C>G	ENSP00000502593.1:n.2783C>G
ENST00000674631.1:c.826C>G	ENSP00000502830.1:p.Arg276Gly
ENST00000674662.1:c.2792C>G	ENSP00000501895.1:n.2792C>G
ENST00000674757.1:c.2793C>G	ENSP00000502202.1:p.Thr931=
ENST00000674822.1:c.2672C>G	ENSP00000501552.1:n.2672C>G
ENST00000674846.1:c.2783C>G	ENSP00000502431.1:n.2783C>G
ENST00000674857.1:c.2777C>G	ENSP00000501687.1:n.2777C>G
ENST00000674960.1:c.2646C>G	ENSP00000501841.1:n.2646C>G
ENST00000674991.1:c.2038C>G	ENSP00000502004.1:p.Arg680Gly
ENST00000674994.1:c.2754C>G	ENSP00000502442.1:n.2754C>G
ENST00000675207.1:c.2884C>G	ENSP00000502644.1:p.Arg962Gly
ENST00000675329.1:c.2764C>G	ENSP00000502287.1:p.Arg922Gly
ENST00000675481.1:c.2788C>G	ENSP00000502723.1:p.Arg930Gly
ENST00000675583.1:c.2717C>G	ENSP00000501740.1:n.2717C>G
ENST00000675638.1:c.2788C>G	ENSP00000501647.1:p.Arg930Gly
ENST00000675724.1:c.2726C>G	ENSP00000502576.1:n.2726C>G
ENST00000675771.1:c.2051C>G	ENSP00000502104.1:n.2051C>G
ENST00000675797.1:c.2193C>G	ENSP00000502023.1:n.2193C>G
ENST00000675809.1:c.2843C>G	ENSP00000502587.1:n.2843C>G
ENST00000675930.1:c.2788C>G	ENSP00000502456.1:p.Arg930Gly
ENST00000675980.1:c.2806C>G	ENSP00000502520.1:p.Arg936Gly
ENST00000676016.1:c.2687C>G	ENSP00000502412.1:n.2687C>G
ENST00000676366.1:c.2788C>G	ENSP00000501605.1:p.Arg930Gly
XM_005268004.3:c.2884C>G	XP_005268061.1:p.Arg962Gly
XM_005268004.4:c.2884C>G	XP_005268061.1:p.Arg962Gly
XM_005268005.3:c.2884C>G	XP_005268062.1:p.Arg962Gly
XM_005268005.4:c.2884C>G	XP_005268062.1:p.Arg962Gly
XM_017021595.1:c.2884C>G	XP_016877084.1:p.Arg962Gly
XR_943507.1:n.3013C>G