Canonical Allele Identifier: CA391219998

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104709667C>G , CM000676.2:g.104709667C>G	GRCh38
NC_000014.8:g.105176004C>G , CM000676.1:g.105176004C>G	GRCh37
NC_000014.7:g.104247049C>G	NCBI36
NG_027684.1:g.25062C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2100C>G MANE Select	NP_071934.3:p.Ser700Arg
ENST00000392634.9:c.2100C>G MANE Select	ENSP00000376410.4:p.Ser700Arg
NM_001031714.3:c.2100C>G	NP_001026884.3:p.Ser700Arg
NM_001031714.4:c.2100C>G	NP_001026884.3:p.Ser700Arg
NM_022489.3:c.2100C>G	NP_071934.3:p.Ser700Arg
ENST00000252527.8:c.504C>G	ENSP00000252527.8:p.Ser168Arg
ENST00000330634.11:c.2100C>G	ENSP00000376406.3:p.Ser700Arg
ENST00000392634.8:c.2100C>G	ENSP00000376410.4:p.Ser700Arg
ENST00000474229.1:n.593C>G
ENST00000617571.4:c.-2024C>G	ENSP00000483829.1:n.-2024C>G
ENST00000617571.5:c.2100C>G	ENSP00000483829.2:p.Ser700Arg
ENST00000674520.1:c.2100C>G	ENSP00000502593.1:p.Ser700Arg
ENST00000674631.1:c.138C>G	ENSP00000502830.1:p.Ser46Arg
ENST00000674662.1:c.2100C>G	ENSP00000501895.1:p.Ser700Arg
ENST00000674757.1:c.2100C>G	ENSP00000502202.1:p.Ser700Arg
ENST00000674822.1:c.1984C>G	ENSP00000501552.1:n.1984C>G
ENST00000674846.1:c.2100C>G	ENSP00000502431.1:p.Ser700Arg
ENST00000674857.1:c.2089C>G	ENSP00000501687.1:n.2089C>G
ENST00000674960.1:c.1958C>G	ENSP00000501841.1:n.1958C>G
ENST00000674991.1:c.1350C>G	ENSP00000502004.1:p.Ser450Arg
ENST00000674994.1:c.2066C>G	ENSP00000502442.1:n.2066C>G
ENST00000675207.1:c.2196C>G	ENSP00000502644.1:p.Ser732Arg
ENST00000675329.1:c.2076C>G	ENSP00000502287.1:p.Ser692Arg
ENST00000675481.1:c.2100C>G	ENSP00000502723.1:p.Ser700Arg
ENST00000675583.1:c.2100C>G	ENSP00000501740.1:p.Ser700Arg
ENST00000675638.1:c.2100C>G	ENSP00000501647.1:p.Ser700Arg
ENST00000675724.1:c.2038C>G	ENSP00000502576.1:n.2038C>G
ENST00000675771.1:c.1363C>G	ENSP00000502104.1:n.1363C>G
ENST00000675797.1:c.1505C>G	ENSP00000502023.1:n.1505C>G
ENST00000675809.1:c.2100C>G	ENSP00000502587.1:p.Ser700Arg
ENST00000675930.1:c.2100C>G	ENSP00000502456.1:p.Ser700Arg
ENST00000675980.1:c.2100C>G	ENSP00000502520.1:p.Ser700Arg
ENST00000676016.1:c.2100C>G	ENSP00000502412.1:p.Ser700Arg
ENST00000676366.1:c.2100C>G	ENSP00000501605.1:p.Ser700Arg
XM_005268004.3:c.2196C>G	XP_005268061.1:p.Ser732Arg
XM_005268004.4:c.2196C>G	XP_005268061.1:p.Ser732Arg
XM_005268005.3:c.2196C>G	XP_005268062.1:p.Ser732Arg
XM_005268005.4:c.2196C>G	XP_005268062.1:p.Ser732Arg
XM_017021595.1:c.2196C>G	XP_016877084.1:p.Ser732Arg
XR_001750518.1:n.2301C>G
XR_943507.1:n.2325C>G