Canonical Allele Identifier: CA391223355

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714215A>G , CM000676.2:g.104714215A>G	GRCh38
NC_000014.8:g.105180552A>G , CM000676.1:g.105180552A>G	GRCh37
NC_000014.7:g.104251597A>G	NCBI36
NG_027684.1:g.29610A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3053A>G MANE Select	NP_071934.3:p.Asn1018Ser
ENST00000392634.9:c.3053A>G MANE Select	ENSP00000376410.4:p.Asn1018Ser
NM_001031714.3:c.3053A>G	NP_001026884.3:p.Asn1018Ser
NM_001031714.4:c.3053A>G	NP_001026884.3:p.Asn1018Ser
NM_022489.3:c.3053A>G	NP_071934.3:p.Asn1018Ser
ENST00000252527.8:c.1457A>G	ENSP00000252527.8:p.Asn486Ser
ENST00000330634.11:c.3053A>G	ENSP00000376406.3:p.Asn1018Ser
ENST00000392634.8:c.3053A>G	ENSP00000376410.4:p.Asn1018Ser
ENST00000617571.4:c.-1081A>G	ENSP00000483829.1:n.-1081A>G
ENST00000617571.5:c.3049A>G	ENSP00000483829.2:p.Thr1017Ala
ENST00000674520.1:c.3048A>G	ENSP00000502593.1:n.3048A>G
ENST00000674631.1:c.1091A>G	ENSP00000502830.1:p.Asn364Ser
ENST00000674662.1:c.3057A>G	ENSP00000501895.1:n.3057A>G
ENST00000674757.1:c.3058A>G	ENSP00000502202.1:p.Thr1020Ala
ENST00000674822.1:c.2937A>G	ENSP00000501552.1:n.2937A>G
ENST00000674846.1:c.3048A>G	ENSP00000502431.1:n.3048A>G
ENST00000674857.1:c.3042A>G	ENSP00000501687.1:n.3042A>G
ENST00000674960.1:c.2911A>G	ENSP00000501841.1:n.2911A>G
ENST00000674991.1:c.2303A>G	ENSP00000502004.1:p.Asn768Ser
ENST00000675207.1:c.3149A>G	ENSP00000502644.1:p.Asn1050Ser
ENST00000675329.1:c.3029A>G	ENSP00000502287.1:p.Asn1010Ser
ENST00000675481.1:c.3053A>G	ENSP00000502723.1:p.Asn1018Ser
ENST00000675583.1:c.2982A>G	ENSP00000501740.1:n.2982A>G
ENST00000675603.1:n.293A>G
ENST00000675638.1:c.3041-69A>G	ENSP00000501647.1:n.3041-69A>G
ENST00000675724.1:c.2991A>G	ENSP00000502576.1:n.2991A>G
ENST00000675771.1:c.2316A>G	ENSP00000502104.1:n.2316A>G
ENST00000675797.1:c.2458A>G	ENSP00000502023.1:n.2458A>G
ENST00000675809.1:c.3108A>G	ENSP00000502587.1:n.3108A>G
ENST00000675930.1:c.3053A>G	ENSP00000502456.1:p.Asn1018Ser
ENST00000675980.1:c.3071A>G	ENSP00000502520.1:p.Asn1024Ser
ENST00000676016.1:c.2952A>G	ENSP00000502412.1:n.2952A>G
ENST00000676366.1:c.3053A>G	ENSP00000501605.1:p.Asn1018Ser
XM_005268004.3:c.3149A>G	XP_005268061.1:p.Asn1050Ser
XM_005268004.4:c.3149A>G	XP_005268061.1:p.Asn1050Ser
XM_005268005.3:c.3149A>G	XP_005268062.1:p.Asn1050Ser
XM_005268005.4:c.3149A>G	XP_005268062.1:p.Asn1050Ser
XM_017021595.1:c.3149A>G	XP_016877084.1:p.Asn1050Ser
XR_943507.1:n.3278A>G