Canonical Allele Identifier: CA391222813

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104713300G>C , CM000676.2:g.104713300G>C	GRCh38
NC_000014.8:g.105179637G>C , CM000676.1:g.105179637G>C	GRCh37
NC_000014.7:g.104250682G>C	NCBI36
NG_027684.1:g.28695G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2869G>C MANE Select	NP_071934.3:p.Gly957Arg
ENST00000392634.9:c.2869G>C MANE Select	ENSP00000376410.4:p.Gly957Arg
NM_001031714.3:c.2869G>C	NP_001026884.3:p.Gly957Arg
NM_001031714.4:c.2869G>C	NP_001026884.3:p.Gly957Arg
NM_022489.3:c.2869G>C	NP_071934.3:p.Gly957Arg
ENST00000252527.8:c.1273G>C	ENSP00000252527.8:p.Gly425Arg
ENST00000330634.11:c.2869G>C	ENSP00000376406.3:p.Gly957Arg
ENST00000392634.8:c.2869G>C	ENSP00000376410.4:p.Gly957Arg
ENST00000477497.1:n.374G>C
ENST00000617571.4:c.-1265G>C	ENSP00000483829.1:n.-1265G>C
ENST00000617571.5:c.2869G>C	ENSP00000483829.2:p.Gly957Arg
ENST00000674520.1:c.2864G>C	ENSP00000502593.1:n.2864G>C
ENST00000674631.1:c.907G>C	ENSP00000502830.1:p.Gly303Arg
ENST00000674662.1:c.2873G>C	ENSP00000501895.1:n.2873G>C
ENST00000674757.1:c.2874G>C	ENSP00000502202.1:p.Thr958=
ENST00000674822.1:c.2753G>C	ENSP00000501552.1:n.2753G>C
ENST00000674846.1:c.2864G>C	ENSP00000502431.1:n.2864G>C
ENST00000674857.1:c.2858G>C	ENSP00000501687.1:n.2858G>C
ENST00000674960.1:c.2727G>C	ENSP00000501841.1:n.2727G>C
ENST00000674991.1:c.2119G>C	ENSP00000502004.1:p.Gly707Arg
ENST00000674994.1:c.2835G>C	ENSP00000502442.1:n.2835G>C
ENST00000675207.1:c.2965G>C	ENSP00000502644.1:p.Gly989Arg
ENST00000675329.1:c.2845G>C	ENSP00000502287.1:p.Gly949Arg
ENST00000675481.1:c.2869G>C	ENSP00000502723.1:p.Gly957Arg
ENST00000675583.1:c.2798G>C	ENSP00000501740.1:n.2798G>C
ENST00000675638.1:c.2869G>C	ENSP00000501647.1:p.Gly957Arg
ENST00000675724.1:c.2807G>C	ENSP00000502576.1:n.2807G>C
ENST00000675771.1:c.2132G>C	ENSP00000502104.1:n.2132G>C
ENST00000675797.1:c.2274G>C	ENSP00000502023.1:n.2274G>C
ENST00000675809.1:c.2924G>C	ENSP00000502587.1:n.2924G>C
ENST00000675930.1:c.2869G>C	ENSP00000502456.1:p.Gly957Arg
ENST00000675980.1:c.2887G>C	ENSP00000502520.1:p.Gly963Arg
ENST00000676016.1:c.2768G>C	ENSP00000502412.1:n.2768G>C
ENST00000676366.1:c.2869G>C	ENSP00000501605.1:p.Gly957Arg
XM_005268004.3:c.2965G>C	XP_005268061.1:p.Gly989Arg
XM_005268004.4:c.2965G>C	XP_005268061.1:p.Gly989Arg
XM_005268005.3:c.2965G>C	XP_005268062.1:p.Gly989Arg
XM_005268005.4:c.2965G>C	XP_005268062.1:p.Gly989Arg
XM_017021595.1:c.2965G>C	XP_016877084.1:p.Gly989Arg
XR_943507.1:n.3094G>C