Canonical Allele Identifier: CA7372941

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104711668C>T , CM000676.2:g.104711668C>T	GRCh38
NC_000014.8:g.105178005C>T , CM000676.1:g.105178005C>T	GRCh37
NC_000014.7:g.104249050C>T	NCBI36
NG_027684.1:g.27063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.2458C>T MANE Select	ENSP00000376410.4:p.Arg820Trp
ENST00000617571.5:c.2458C>T	ENSP00000483829.2:p.Arg820Trp
ENST00000674520.1:c.2458C>T	ENSP00000502593.1:p.Arg820Trp
ENST00000674631.1:c.496C>T	ENSP00000502830.1:p.Arg166Trp
ENST00000674662.1:c.2462C>T	ENSP00000501895.1:n.2462C>T
ENST00000674757.1:c.2458C>T	ENSP00000502202.1:p.Arg820Trp
ENST00000674822.1:c.2342C>T	ENSP00000501552.1:n.2342C>T
ENST00000674846.1:c.2453C>T	ENSP00000502431.1:n.2453C>T
ENST00000674857.1:c.2447C>T	ENSP00000501687.1:n.2447C>T
ENST00000674960.1:c.2316C>T	ENSP00000501841.1:n.2316C>T
ENST00000674991.1:c.1708C>T	ENSP00000502004.1:p.Arg570Trp
ENST00000674994.1:c.2424C>T	ENSP00000502442.1:n.2424C>T
ENST00000675207.1:c.2554C>T	ENSP00000502644.1:p.Arg852Trp
ENST00000675329.1:c.2434C>T	ENSP00000502287.1:p.Arg812Trp
ENST00000675481.1:c.2458C>T	ENSP00000502723.1:p.Arg820Trp
ENST00000675557.1:n.237C>T
ENST00000675583.1:c.2387C>T	ENSP00000501740.1:n.2387C>T
ENST00000675638.1:c.2458C>T	ENSP00000501647.1:p.Arg820Trp
ENST00000675724.1:c.2396C>T	ENSP00000502576.1:n.2396C>T
ENST00000675771.1:c.1721C>T	ENSP00000502104.1:n.1721C>T
ENST00000675797.1:c.1863C>T	ENSP00000502023.1:n.1863C>T
ENST00000675809.1:c.2513C>T	ENSP00000502587.1:n.2513C>T
ENST00000675930.1:c.2458C>T	ENSP00000502456.1:p.Arg820Trp
ENST00000675980.1:c.2476C>T	ENSP00000502520.1:p.Arg826Trp
ENST00000676016.1:c.2357C>T	ENSP00000502412.1:n.2357C>T
ENST00000676366.1:c.2458C>T	ENSP00000501605.1:p.Arg820Trp
ENST00000252527.8:c.862C>T	ENSP00000252527.8:p.Arg288Trp
ENST00000330634.11:c.2458C>T	ENSP00000376406.3:p.Arg820Trp
ENST00000392634.8:c.2458C>T	ENSP00000376410.4:p.Arg820Trp
ENST00000480763.2:n.323C>T
ENST00000617571.4:c.-1676C>T	ENSP00000483829.1:n.-1676C>T
NM_001031714.3:c.2458C>T	NP_001026884.3:p.Arg820Trp
NM_022489.3:c.2458C>T	NP_071934.3:p.Arg820Trp
XM_005268004.3:c.2554C>T	XP_005268061.1:p.Arg852Trp
XM_005268005.3:c.2554C>T	XP_005268062.1:p.Arg852Trp
XR_943507.1:n.2683C>T
XM_005268004.4:c.2554C>T	XP_005268061.1:p.Arg852Trp
XM_005268005.4:c.2554C>T	XP_005268062.1:p.Arg852Trp
XM_017021595.1:c.2554C>T	XP_016877084.1:p.Arg852Trp
XR_001750518.1:n.2714C>T
NM_001031714.4:c.2458C>T	NP_001026884.3:p.Arg820Trp
NM_022489.4:c.2458C>T MANE Select	NP_071934.3:p.Arg820Trp