Canonical Allele Identifier: CA267328527

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104711669G>A , CM000676.2:g.104711669G>A	GRCh38
NC_000014.8:g.105178006G>A , CM000676.1:g.105178006G>A	GRCh37
NC_000014.7:g.104249051G>A	NCBI36
NG_027684.1:g.27064G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2459G>A MANE Select	NP_071934.3:p.Arg820Gln
ENST00000392634.9:c.2459G>A MANE Select	ENSP00000376410.4:p.Arg820Gln
NM_001031714.3:c.2459G>A	NP_001026884.3:p.Arg820Gln
NM_001031714.4:c.2459G>A	NP_001026884.3:p.Arg820Gln
NM_022489.3:c.2459G>A	NP_071934.3:p.Arg820Gln
ENST00000252527.8:c.863G>A	ENSP00000252527.8:p.Arg288Gln
ENST00000330634.11:c.2459G>A	ENSP00000376406.3:p.Arg820Gln
ENST00000392634.8:c.2459G>A	ENSP00000376410.4:p.Arg820Gln
ENST00000480763.2:n.324G>A
ENST00000617571.4:c.-1675G>A	ENSP00000483829.1:n.-1675G>A
ENST00000617571.5:c.2459G>A	ENSP00000483829.2:p.Arg820Gln
ENST00000674520.1:c.2459G>A	ENSP00000502593.1:p.Arg820Gln
ENST00000674631.1:c.497G>A	ENSP00000502830.1:p.Arg166Gln
ENST00000674662.1:c.2463G>A	ENSP00000501895.1:n.2463G>A
ENST00000674757.1:c.2459G>A	ENSP00000502202.1:p.Arg820Gln
ENST00000674822.1:c.2343G>A	ENSP00000501552.1:n.2343G>A
ENST00000674846.1:c.2454G>A	ENSP00000502431.1:n.2454G>A
ENST00000674857.1:c.2448G>A	ENSP00000501687.1:n.2448G>A
ENST00000674960.1:c.2317G>A	ENSP00000501841.1:n.2317G>A
ENST00000674991.1:c.1709G>A	ENSP00000502004.1:p.Arg570Gln
ENST00000674994.1:c.2425G>A	ENSP00000502442.1:n.2425G>A
ENST00000675207.1:c.2555G>A	ENSP00000502644.1:p.Arg852Gln
ENST00000675329.1:c.2435G>A	ENSP00000502287.1:p.Arg812Gln
ENST00000675481.1:c.2459G>A	ENSP00000502723.1:p.Arg820Gln
ENST00000675557.1:n.238G>A
ENST00000675583.1:c.2388G>A	ENSP00000501740.1:n.2388G>A
ENST00000675638.1:c.2459G>A	ENSP00000501647.1:p.Arg820Gln
ENST00000675724.1:c.2397G>A	ENSP00000502576.1:n.2397G>A
ENST00000675771.1:c.1722G>A	ENSP00000502104.1:n.1722G>A
ENST00000675797.1:c.1864G>A	ENSP00000502023.1:n.1864G>A
ENST00000675809.1:c.2514G>A	ENSP00000502587.1:n.2514G>A
ENST00000675930.1:c.2459G>A	ENSP00000502456.1:p.Arg820Gln
ENST00000675980.1:c.2477G>A	ENSP00000502520.1:p.Arg826Gln
ENST00000676016.1:c.2358G>A	ENSP00000502412.1:n.2358G>A
ENST00000676366.1:c.2459G>A	ENSP00000501605.1:p.Arg820Gln
XM_005268004.3:c.2555G>A	XP_005268061.1:p.Arg852Gln
XM_005268004.4:c.2555G>A	XP_005268061.1:p.Arg852Gln
XM_005268005.3:c.2555G>A	XP_005268062.1:p.Arg852Gln
XM_005268005.4:c.2555G>A	XP_005268062.1:p.Arg852Gln
XM_017021595.1:c.2555G>A	XP_016877084.1:p.Arg852Gln
XR_001750518.1:n.2715G>A
XR_943507.1:n.2684G>A