Canonical Allele Identifier: CA7372906

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104711183G>A , CM000676.2:g.104711183G>A	GRCh38
NC_000014.8:g.105177520G>A , CM000676.1:g.105177520G>A	GRCh37
NC_000014.7:g.104248565G>A	NCBI36
NG_027684.1:g.26578G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2415G>A MANE Select	NP_071934.3:p.Leu805=
ENST00000392634.9:c.2415G>A MANE Select	ENSP00000376410.4:p.Leu805=
NM_001031714.3:c.2415G>A	NP_001026884.3:p.Leu805=
NM_001031714.4:c.2415G>A	NP_001026884.3:p.Leu805=
NM_022489.3:c.2415G>A	NP_071934.3:p.Leu805=
ENST00000252527.8:c.819G>A	ENSP00000252527.8:p.Leu273=
ENST00000330634.11:c.2415G>A	ENSP00000376406.3:p.Leu805=
ENST00000392634.8:c.2415G>A	ENSP00000376410.4:p.Leu805=
ENST00000474229.1:n.908G>A
ENST00000480763.2:n.283+176G>A
ENST00000617571.4:c.-1719G>A	ENSP00000483829.1:n.-1719G>A
ENST00000617571.5:c.2415G>A	ENSP00000483829.2:p.Leu805=
ENST00000674520.1:c.2415G>A	ENSP00000502593.1:p.Leu805=
ENST00000674631.1:c.453G>A	ENSP00000502830.1:p.Leu151=
ENST00000674662.1:c.2419G>A	ENSP00000501895.1:n.2419G>A
ENST00000674757.1:c.2415G>A	ENSP00000502202.1:p.Leu805=
ENST00000674822.1:c.2299G>A	ENSP00000501552.1:n.2299G>A
ENST00000674846.1:c.2410G>A	ENSP00000502431.1:n.2410G>A
ENST00000674857.1:c.2404G>A	ENSP00000501687.1:n.2404G>A
ENST00000674960.1:c.2273G>A	ENSP00000501841.1:n.2273G>A
ENST00000674991.1:c.1665G>A	ENSP00000502004.1:p.Leu555=
ENST00000674994.1:c.2381G>A	ENSP00000502442.1:n.2381G>A
ENST00000675207.1:c.2511G>A	ENSP00000502644.1:p.Leu837=
ENST00000675329.1:c.2391G>A	ENSP00000502287.1:p.Leu797=
ENST00000675481.1:c.2415G>A	ENSP00000502723.1:p.Leu805=
ENST00000675557.1:n.194G>A
ENST00000675583.1:c.2344G>A	ENSP00000501740.1:n.2344G>A
ENST00000675638.1:c.2415G>A	ENSP00000501647.1:p.Leu805=
ENST00000675724.1:c.2353G>A	ENSP00000502576.1:n.2353G>A
ENST00000675771.1:c.1678G>A	ENSP00000502104.1:n.1678G>A
ENST00000675797.1:c.1820G>A	ENSP00000502023.1:n.1820G>A
ENST00000675809.1:c.2470G>A	ENSP00000502587.1:n.2470G>A
ENST00000675930.1:c.2415G>A	ENSP00000502456.1:p.Leu805=
ENST00000675980.1:c.2433G>A	ENSP00000502520.1:p.Leu811=
ENST00000676016.1:c.2314G>A	ENSP00000502412.1:n.2314G>A
ENST00000676366.1:c.2415G>A	ENSP00000501605.1:p.Leu805=
XM_005268004.3:c.2511G>A	XP_005268061.1:p.Leu837=
XM_005268004.4:c.2511G>A	XP_005268061.1:p.Leu837=
XM_005268005.3:c.2511G>A	XP_005268062.1:p.Leu837=
XM_005268005.4:c.2511G>A	XP_005268062.1:p.Leu837=
XM_017021595.1:c.2511G>A	XP_016877084.1:p.Leu837=
XR_001750518.1:n.2671G>A
XR_943507.1:n.2640G>A