Canonical Allele Identifier: CA391225118

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714703C>T , CM000676.2:g.104714703C>T	GRCh38
NC_000014.8:g.105181040C>T , CM000676.1:g.105181040C>T	GRCh37
NC_000014.7:g.104252085C>T	NCBI36
NG_027684.1:g.30098C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.3541C>T MANE Select	ENSP00000376410.4:p.Pro1181Ser
ENST00000617571.5:c.3537C>T	ENSP00000483829.2:n.3537C>T
ENST00000674520.1:c.3536C>T	ENSP00000502593.1:n.3536C>T
ENST00000674631.1:c.1579C>T	ENSP00000502830.1:p.Pro527Ser
ENST00000674662.1:c.3545C>T	ENSP00000501895.1:n.3545C>T
ENST00000674757.1:c.3546C>T	ENSP00000502202.1:n.3546C>T
ENST00000674822.1:c.3425C>T	ENSP00000501552.1:n.3425C>T
ENST00000674846.1:c.3536C>T	ENSP00000502431.1:n.3536C>T
ENST00000674857.1:c.3530C>T	ENSP00000501687.1:n.3530C>T
ENST00000674960.1:c.3399C>T	ENSP00000501841.1:n.3399C>T
ENST00000674991.1:c.2791C>T	ENSP00000502004.1:p.Pro931Ser
ENST00000675207.1:c.3637C>T	ENSP00000502644.1:p.Pro1213Ser
ENST00000675329.1:c.3517C>T	ENSP00000502287.1:p.Pro1173Ser
ENST00000675481.1:c.3541C>T	ENSP00000502723.1:p.Pro1181Ser
ENST00000675583.1:c.3470C>T	ENSP00000501740.1:n.3470C>T
ENST00000675603.1:n.781C>T
ENST00000675638.1:c.3460C>T	ENSP00000501647.1:p.Pro1154Ser
ENST00000675724.1:c.3479C>T	ENSP00000502576.1:n.3479C>T
ENST00000675771.1:c.2804C>T	ENSP00000502104.1:n.2804C>T
ENST00000675797.1:c.2946C>T	ENSP00000502023.1:n.2946C>T
ENST00000675809.1:c.3596C>T	ENSP00000502587.1:n.3596C>T
ENST00000675930.1:c.3429C>T	ENSP00000502456.1:p.Pro1143=
ENST00000675980.1:c.3559C>T	ENSP00000502520.1:p.Pro1187Ser
ENST00000676016.1:c.3440C>T	ENSP00000502412.1:n.3440C>T
ENST00000676366.1:c.3348C>T	ENSP00000501605.1:p.Pro1116=
ENST00000252527.8:c.1945C>T	ENSP00000252527.8:p.Pro649Ser
ENST00000330634.11:c.3541C>T	ENSP00000376406.3:p.Pro1181Ser
ENST00000392634.8:c.3541C>T	ENSP00000376410.4:p.Pro1181Ser
ENST00000617571.4:c.-593C>T	ENSP00000483829.1:n.-593C>T
NM_001031714.3:c.3541C>T	NP_001026884.3:p.Pro1181Ser
NM_022489.3:c.3541C>T	NP_071934.3:p.Pro1181Ser
XM_005268004.3:c.3637C>T	XP_005268061.1:p.Pro1213Ser
XM_005268005.3:c.3637C>T	XP_005268062.1:p.Pro1213Ser
XR_943507.1:n.3766C>T
XM_005268004.4:c.3637C>T	XP_005268061.1:p.Pro1213Ser
XM_005268005.4:c.3637C>T	XP_005268062.1:p.Pro1213Ser
XM_017021595.1:c.3637C>T	XP_016877084.1:p.Pro1213Ser
NM_001031714.4:c.3541C>T	NP_001026884.3:p.Pro1181Ser
NM_022489.4:c.3541C>T MANE Select	NP_071934.3:p.Pro1181Ser