Canonical Allele Identifier: CA391222764

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104713274A>C , CM000676.2:g.104713274A>C	GRCh38
NC_000014.8:g.105179611A>C , CM000676.1:g.105179611A>C	GRCh37
NC_000014.7:g.104250656A>C	NCBI36
NG_027684.1:g.28669A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2843A>C MANE Select	NP_071934.3:p.Glu948Ala
ENST00000392634.9:c.2843A>C MANE Select	ENSP00000376410.4:p.Glu948Ala
NM_001031714.3:c.2843A>C	NP_001026884.3:p.Glu948Ala
NM_001031714.4:c.2843A>C	NP_001026884.3:p.Glu948Ala
NM_022489.3:c.2843A>C	NP_071934.3:p.Glu948Ala
ENST00000252527.8:c.1247A>C	ENSP00000252527.8:p.Glu416Ala
ENST00000330634.11:c.2843A>C	ENSP00000376406.3:p.Glu948Ala
ENST00000392634.8:c.2843A>C	ENSP00000376410.4:p.Glu948Ala
ENST00000477497.1:n.348A>C
ENST00000617571.4:c.-1291A>C	ENSP00000483829.1:n.-1291A>C
ENST00000617571.5:c.2843A>C	ENSP00000483829.2:p.Glu948Ala
ENST00000674520.1:c.2838A>C	ENSP00000502593.1:n.2838A>C
ENST00000674631.1:c.881A>C	ENSP00000502830.1:p.Glu294Ala
ENST00000674662.1:c.2847A>C	ENSP00000501895.1:n.2847A>C
ENST00000674757.1:c.2848A>C	ENSP00000502202.1:p.Arg950=
ENST00000674822.1:c.2727A>C	ENSP00000501552.1:n.2727A>C
ENST00000674846.1:c.2838A>C	ENSP00000502431.1:n.2838A>C
ENST00000674857.1:c.2832A>C	ENSP00000501687.1:n.2832A>C
ENST00000674960.1:c.2701A>C	ENSP00000501841.1:n.2701A>C
ENST00000674991.1:c.2093A>C	ENSP00000502004.1:p.Glu698Ala
ENST00000674994.1:c.2809A>C	ENSP00000502442.1:n.2809A>C
ENST00000675207.1:c.2939A>C	ENSP00000502644.1:p.Glu980Ala
ENST00000675329.1:c.2819A>C	ENSP00000502287.1:p.Glu940Ala
ENST00000675481.1:c.2843A>C	ENSP00000502723.1:p.Glu948Ala
ENST00000675583.1:c.2772A>C	ENSP00000501740.1:n.2772A>C
ENST00000675638.1:c.2843A>C	ENSP00000501647.1:p.Glu948Ala
ENST00000675724.1:c.2781A>C	ENSP00000502576.1:n.2781A>C
ENST00000675771.1:c.2106A>C	ENSP00000502104.1:n.2106A>C
ENST00000675797.1:c.2248A>C	ENSP00000502023.1:n.2248A>C
ENST00000675809.1:c.2898A>C	ENSP00000502587.1:n.2898A>C
ENST00000675930.1:c.2843A>C	ENSP00000502456.1:p.Glu948Ala
ENST00000675980.1:c.2861A>C	ENSP00000502520.1:p.Glu954Ala
ENST00000676016.1:c.2742A>C	ENSP00000502412.1:n.2742A>C
ENST00000676366.1:c.2843A>C	ENSP00000501605.1:p.Glu948Ala
XM_005268004.3:c.2939A>C	XP_005268061.1:p.Glu980Ala
XM_005268004.4:c.2939A>C	XP_005268061.1:p.Glu980Ala
XM_005268005.3:c.2939A>C	XP_005268062.1:p.Glu980Ala
XM_005268005.4:c.2939A>C	XP_005268062.1:p.Glu980Ala
XM_017021595.1:c.2939A>C	XP_016877084.1:p.Glu980Ala
XR_943507.1:n.3068A>C