Canonical Allele Identifier: CA391222772

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104713277C>T , CM000676.2:g.104713277C>T	GRCh38
NC_000014.8:g.105179614C>T , CM000676.1:g.105179614C>T	GRCh37
NC_000014.7:g.104250659C>T	NCBI36
NG_027684.1:g.28672C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2846C>T MANE Select	NP_071934.3:p.Ala949Val
ENST00000392634.9:c.2846C>T MANE Select	ENSP00000376410.4:p.Ala949Val
NM_001031714.3:c.2846C>T	NP_001026884.3:p.Ala949Val
NM_001031714.4:c.2846C>T	NP_001026884.3:p.Ala949Val
NM_022489.3:c.2846C>T	NP_071934.3:p.Ala949Val
ENST00000252527.8:c.1250C>T	ENSP00000252527.8:p.Ala417Val
ENST00000330634.11:c.2846C>T	ENSP00000376406.3:p.Ala949Val
ENST00000392634.8:c.2846C>T	ENSP00000376410.4:p.Ala949Val
ENST00000477497.1:n.351C>T
ENST00000617571.4:c.-1288C>T	ENSP00000483829.1:n.-1288C>T
ENST00000617571.5:c.2846C>T	ENSP00000483829.2:p.Ala949Val
ENST00000674520.1:c.2841C>T	ENSP00000502593.1:n.2841C>T
ENST00000674631.1:c.884C>T	ENSP00000502830.1:p.Ala295Val
ENST00000674662.1:c.2850C>T	ENSP00000501895.1:n.2850C>T
ENST00000674757.1:c.2851C>T	ENSP00000502202.1:p.Arg951Cys
ENST00000674822.1:c.2730C>T	ENSP00000501552.1:n.2730C>T
ENST00000674846.1:c.2841C>T	ENSP00000502431.1:n.2841C>T
ENST00000674857.1:c.2835C>T	ENSP00000501687.1:n.2835C>T
ENST00000674960.1:c.2704C>T	ENSP00000501841.1:n.2704C>T
ENST00000674991.1:c.2096C>T	ENSP00000502004.1:p.Ala699Val
ENST00000674994.1:c.2812C>T	ENSP00000502442.1:n.2812C>T
ENST00000675207.1:c.2942C>T	ENSP00000502644.1:p.Ala981Val
ENST00000675329.1:c.2822C>T	ENSP00000502287.1:p.Ala941Val
ENST00000675481.1:c.2846C>T	ENSP00000502723.1:p.Ala949Val
ENST00000675583.1:c.2775C>T	ENSP00000501740.1:n.2775C>T
ENST00000675638.1:c.2846C>T	ENSP00000501647.1:p.Ala949Val
ENST00000675724.1:c.2784C>T	ENSP00000502576.1:n.2784C>T
ENST00000675771.1:c.2109C>T	ENSP00000502104.1:n.2109C>T
ENST00000675797.1:c.2251C>T	ENSP00000502023.1:n.2251C>T
ENST00000675809.1:c.2901C>T	ENSP00000502587.1:n.2901C>T
ENST00000675930.1:c.2846C>T	ENSP00000502456.1:p.Ala949Val
ENST00000675980.1:c.2864C>T	ENSP00000502520.1:p.Ala955Val
ENST00000676016.1:c.2745C>T	ENSP00000502412.1:n.2745C>T
ENST00000676366.1:c.2846C>T	ENSP00000501605.1:p.Ala949Val
XM_005268004.3:c.2942C>T	XP_005268061.1:p.Ala981Val
XM_005268004.4:c.2942C>T	XP_005268061.1:p.Ala981Val
XM_005268005.3:c.2942C>T	XP_005268062.1:p.Ala981Val
XM_005268005.4:c.2942C>T	XP_005268062.1:p.Ala981Val
XM_017021595.1:c.2942C>T	XP_016877084.1:p.Ala981Val
XR_943507.1:n.3071C>T