Canonical Allele Identifier: CA391223015

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104713526G>C , CM000676.2:g.104713526G>C	GRCh38
NC_000014.8:g.105179863G>C , CM000676.1:g.105179863G>C	GRCh37
NC_000014.7:g.104250908G>C	NCBI36
NG_027684.1:g.28921G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2960G>C MANE Select	NP_071934.3:p.Arg987Pro
ENST00000392634.9:c.2960G>C MANE Select	ENSP00000376410.4:p.Arg987Pro
NM_001031714.3:c.2960G>C	NP_001026884.3:p.Arg987Pro
NM_001031714.4:c.2960G>C	NP_001026884.3:p.Arg987Pro
NM_022489.3:c.2960G>C	NP_071934.3:p.Arg987Pro
ENST00000252527.8:c.1364G>C	ENSP00000252527.8:p.Arg455Pro
ENST00000330634.11:c.2960G>C	ENSP00000376406.3:p.Arg987Pro
ENST00000392634.8:c.2960G>C	ENSP00000376410.4:p.Arg987Pro
ENST00000477497.1:n.465G>C
ENST00000617571.4:c.-1174G>C	ENSP00000483829.1:n.-1174G>C
ENST00000617571.5:c.2956G>C	ENSP00000483829.2:p.Gly986Arg
ENST00000674520.1:c.2955G>C	ENSP00000502593.1:n.2955G>C
ENST00000674631.1:c.998G>C	ENSP00000502830.1:p.Arg333Pro
ENST00000674662.1:c.2964G>C	ENSP00000501895.1:n.2964G>C
ENST00000674757.1:c.2965G>C	ENSP00000502202.1:p.Gly989Arg
ENST00000674822.1:c.2844G>C	ENSP00000501552.1:n.2844G>C
ENST00000674846.1:c.2955G>C	ENSP00000502431.1:n.2955G>C
ENST00000674857.1:c.2949G>C	ENSP00000501687.1:n.2949G>C
ENST00000674960.1:c.2818G>C	ENSP00000501841.1:n.2818G>C
ENST00000674991.1:c.2210G>C	ENSP00000502004.1:p.Arg737Pro
ENST00000674994.1:c.2926G>C	ENSP00000502442.1:n.2926G>C
ENST00000675207.1:c.3056G>C	ENSP00000502644.1:p.Arg1019Pro
ENST00000675329.1:c.2936G>C	ENSP00000502287.1:p.Arg979Pro
ENST00000675481.1:c.2960G>C	ENSP00000502723.1:p.Arg987Pro
ENST00000675583.1:c.2889G>C	ENSP00000501740.1:n.2889G>C
ENST00000675603.1:n.87G>C
ENST00000675638.1:c.2960G>C	ENSP00000501647.1:p.Arg987Pro
ENST00000675724.1:c.2898G>C	ENSP00000502576.1:n.2898G>C
ENST00000675771.1:c.2223G>C	ENSP00000502104.1:n.2223G>C
ENST00000675797.1:c.2365G>C	ENSP00000502023.1:n.2365G>C
ENST00000675809.1:c.3015G>C	ENSP00000502587.1:n.3015G>C
ENST00000675930.1:c.2960G>C	ENSP00000502456.1:p.Arg987Pro
ENST00000675980.1:c.2978G>C	ENSP00000502520.1:p.Arg993Pro
ENST00000676016.1:c.2859G>C	ENSP00000502412.1:n.2859G>C
ENST00000676366.1:c.2960G>C	ENSP00000501605.1:p.Arg987Pro
XM_005268004.3:c.3056G>C	XP_005268061.1:p.Arg1019Pro
XM_005268004.4:c.3056G>C	XP_005268061.1:p.Arg1019Pro
XM_005268005.3:c.3056G>C	XP_005268062.1:p.Arg1019Pro
XM_005268005.4:c.3056G>C	XP_005268062.1:p.Arg1019Pro
XM_017021595.1:c.3056G>C	XP_016877084.1:p.Arg1019Pro
XR_943507.1:n.3185G>C