Canonical Allele Identifier: CA7373089

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104713220G>A , CM000676.2:g.104713220G>A	GRCh38
NC_000014.8:g.105179557G>A , CM000676.1:g.105179557G>A	GRCh37
NC_000014.7:g.104250602G>A	NCBI36
NG_027684.1:g.28615G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2789G>A MANE Select	NP_071934.3:p.Arg930Gln
ENST00000392634.9:c.2789G>A MANE Select	ENSP00000376410.4:p.Arg930Gln
NM_001031714.3:c.2789G>A	NP_001026884.3:p.Arg930Gln
NM_001031714.4:c.2789G>A	NP_001026884.3:p.Arg930Gln
NM_022489.3:c.2789G>A	NP_071934.3:p.Arg930Gln
ENST00000252527.8:c.1193G>A	ENSP00000252527.8:p.Arg398Gln
ENST00000330634.11:c.2789G>A	ENSP00000376406.3:p.Arg930Gln
ENST00000392634.8:c.2789G>A	ENSP00000376410.4:p.Arg930Gln
ENST00000477497.1:n.294G>A
ENST00000617571.4:c.-1345G>A	ENSP00000483829.1:n.-1345G>A
ENST00000617571.5:c.2789G>A	ENSP00000483829.2:p.Arg930Gln
ENST00000674520.1:c.2784G>A	ENSP00000502593.1:n.2784G>A
ENST00000674631.1:c.827G>A	ENSP00000502830.1:p.Arg276Gln
ENST00000674662.1:c.2793G>A	ENSP00000501895.1:n.2793G>A
ENST00000674757.1:c.2794G>A	ENSP00000502202.1:p.Gly932Arg
ENST00000674822.1:c.2673G>A	ENSP00000501552.1:n.2673G>A
ENST00000674846.1:c.2784G>A	ENSP00000502431.1:n.2784G>A
ENST00000674857.1:c.2778G>A	ENSP00000501687.1:n.2778G>A
ENST00000674960.1:c.2647G>A	ENSP00000501841.1:n.2647G>A
ENST00000674991.1:c.2039G>A	ENSP00000502004.1:p.Arg680Gln
ENST00000674994.1:c.2755G>A	ENSP00000502442.1:n.2755G>A
ENST00000675207.1:c.2885G>A	ENSP00000502644.1:p.Arg962Gln
ENST00000675329.1:c.2765G>A	ENSP00000502287.1:p.Arg922Gln
ENST00000675481.1:c.2789G>A	ENSP00000502723.1:p.Arg930Gln
ENST00000675583.1:c.2718G>A	ENSP00000501740.1:n.2718G>A
ENST00000675638.1:c.2789G>A	ENSP00000501647.1:p.Arg930Gln
ENST00000675724.1:c.2727G>A	ENSP00000502576.1:n.2727G>A
ENST00000675771.1:c.2052G>A	ENSP00000502104.1:n.2052G>A
ENST00000675797.1:c.2194G>A	ENSP00000502023.1:n.2194G>A
ENST00000675809.1:c.2844G>A	ENSP00000502587.1:n.2844G>A
ENST00000675930.1:c.2789G>A	ENSP00000502456.1:p.Arg930Gln
ENST00000675980.1:c.2807G>A	ENSP00000502520.1:p.Arg936Gln
ENST00000676016.1:c.2688G>A	ENSP00000502412.1:n.2688G>A
ENST00000676366.1:c.2789G>A	ENSP00000501605.1:p.Arg930Gln
XM_005268004.3:c.2885G>A	XP_005268061.1:p.Arg962Gln
XM_005268004.4:c.2885G>A	XP_005268061.1:p.Arg962Gln
XM_005268005.3:c.2885G>A	XP_005268062.1:p.Arg962Gln
XM_005268005.4:c.2885G>A	XP_005268062.1:p.Arg962Gln
XM_017021595.1:c.2885G>A	XP_016877084.1:p.Arg962Gln
XR_943507.1:n.3014G>A