Canonical Allele Identifier: CA7373125

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104713457C>G , CM000676.2:g.104713457C>G	GRCh38
NC_000014.8:g.105179794C>G , CM000676.1:g.105179794C>G	GRCh37
NC_000014.7:g.104250839C>G	NCBI36
NG_027684.1:g.28852C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2891C>G MANE Select	NP_071934.3:p.Pro964Arg
ENST00000392634.9:c.2891C>G MANE Select	ENSP00000376410.4:p.Pro964Arg
NM_001031714.3:c.2891C>G	NP_001026884.3:p.Pro964Arg
NM_001031714.4:c.2891C>G	NP_001026884.3:p.Pro964Arg
NM_022489.3:c.2891C>G	NP_071934.3:p.Pro964Arg
ENST00000252527.8:c.1295C>G	ENSP00000252527.8:p.Pro432Arg
ENST00000330634.11:c.2891C>G	ENSP00000376406.3:p.Pro964Arg
ENST00000392634.8:c.2891C>G	ENSP00000376410.4:p.Pro964Arg
ENST00000477497.1:n.396C>G
ENST00000617571.4:c.-1243C>G	ENSP00000483829.1:n.-1243C>G
ENST00000617571.5:c.2887C>G	ENSP00000483829.2:p.Pro963Ala
ENST00000674520.1:c.2886C>G	ENSP00000502593.1:n.2886C>G
ENST00000674631.1:c.929C>G	ENSP00000502830.1:p.Pro310Arg
ENST00000674662.1:c.2895C>G	ENSP00000501895.1:n.2895C>G
ENST00000674757.1:c.2896C>G	ENSP00000502202.1:p.Pro966Ala
ENST00000674822.1:c.2775C>G	ENSP00000501552.1:n.2775C>G
ENST00000674846.1:c.2886C>G	ENSP00000502431.1:n.2886C>G
ENST00000674857.1:c.2880C>G	ENSP00000501687.1:n.2880C>G
ENST00000674960.1:c.2749C>G	ENSP00000501841.1:n.2749C>G
ENST00000674991.1:c.2141C>G	ENSP00000502004.1:p.Pro714Arg
ENST00000674994.1:c.2857C>G	ENSP00000502442.1:n.2857C>G
ENST00000675207.1:c.2987C>G	ENSP00000502644.1:p.Pro996Arg
ENST00000675329.1:c.2867C>G	ENSP00000502287.1:p.Pro956Arg
ENST00000675481.1:c.2891C>G	ENSP00000502723.1:p.Pro964Arg
ENST00000675583.1:c.2820C>G	ENSP00000501740.1:n.2820C>G
ENST00000675603.1:n.18C>G
ENST00000675638.1:c.2891C>G	ENSP00000501647.1:p.Pro964Arg
ENST00000675724.1:c.2829C>G	ENSP00000502576.1:n.2829C>G
ENST00000675771.1:c.2154C>G	ENSP00000502104.1:n.2154C>G
ENST00000675797.1:c.2296C>G	ENSP00000502023.1:n.2296C>G
ENST00000675809.1:c.2946C>G	ENSP00000502587.1:n.2946C>G
ENST00000675930.1:c.2891C>G	ENSP00000502456.1:p.Pro964Arg
ENST00000675980.1:c.2909C>G	ENSP00000502520.1:p.Pro970Arg
ENST00000676016.1:c.2790C>G	ENSP00000502412.1:n.2790C>G
ENST00000676366.1:c.2891C>G	ENSP00000501605.1:p.Pro964Arg
XM_005268004.3:c.2987C>G	XP_005268061.1:p.Pro996Arg
XM_005268004.4:c.2987C>G	XP_005268061.1:p.Pro996Arg
XM_005268005.3:c.2987C>G	XP_005268062.1:p.Pro996Arg
XM_005268005.4:c.2987C>G	XP_005268062.1:p.Pro996Arg
XM_017021595.1:c.2987C>G	XP_016877084.1:p.Pro996Arg
XR_943507.1:n.3116C>G