Canonical Allele Identifier: CA7373036

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104712889G>A , CM000676.2:g.104712889G>A	GRCh38
NC_000014.8:g.105179226G>A , CM000676.1:g.105179226G>A	GRCh37
NC_000014.7:g.104250271G>A	NCBI36
NG_027684.1:g.28284G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2672G>A MANE Select	NP_071934.3:p.Arg891Gln
ENST00000392634.9:c.2672G>A MANE Select	ENSP00000376410.4:p.Arg891Gln
NM_001031714.3:c.2672G>A	NP_001026884.3:p.Arg891Gln
NM_001031714.4:c.2672G>A	NP_001026884.3:p.Arg891Gln
NM_022489.3:c.2672G>A	NP_071934.3:p.Arg891Gln
ENST00000252527.8:c.1076G>A	ENSP00000252527.8:p.Arg359Gln
ENST00000330634.11:c.2672G>A	ENSP00000376406.3:p.Arg891Gln
ENST00000392634.8:c.2672G>A	ENSP00000376410.4:p.Arg891Gln
ENST00000477497.1:n.177G>A
ENST00000480763.2:n.537G>A
ENST00000617571.4:c.-1462G>A	ENSP00000483829.1:n.-1462G>A
ENST00000617571.5:c.2672G>A	ENSP00000483829.2:p.Arg891Gln
ENST00000674520.1:c.2667G>A	ENSP00000502593.1:n.2667G>A
ENST00000674631.1:c.710G>A	ENSP00000502830.1:p.Arg237Gln
ENST00000674662.1:c.2676G>A	ENSP00000501895.1:n.2676G>A
ENST00000674757.1:c.2672G>A	ENSP00000502202.1:p.Arg891Gln
ENST00000674822.1:c.2556G>A	ENSP00000501552.1:n.2556G>A
ENST00000674846.1:c.2667G>A	ENSP00000502431.1:n.2667G>A
ENST00000674857.1:c.2661G>A	ENSP00000501687.1:n.2661G>A
ENST00000674960.1:c.2530G>A	ENSP00000501841.1:n.2530G>A
ENST00000674991.1:c.1922G>A	ENSP00000502004.1:p.Arg641Gln
ENST00000674994.1:c.2638G>A	ENSP00000502442.1:n.2638G>A
ENST00000675207.1:c.2768G>A	ENSP00000502644.1:p.Arg923Gln
ENST00000675329.1:c.2648G>A	ENSP00000502287.1:p.Arg883Gln
ENST00000675481.1:c.2672G>A	ENSP00000502723.1:p.Arg891Gln
ENST00000675557.1:n.451G>A
ENST00000675583.1:c.2601G>A	ENSP00000501740.1:n.2601G>A
ENST00000675638.1:c.2672G>A	ENSP00000501647.1:p.Arg891Gln
ENST00000675724.1:c.2610G>A	ENSP00000502576.1:n.2610G>A
ENST00000675771.1:c.1935G>A	ENSP00000502104.1:n.1935G>A
ENST00000675797.1:c.2077G>A	ENSP00000502023.1:n.2077G>A
ENST00000675809.1:c.2727G>A	ENSP00000502587.1:n.2727G>A
ENST00000675930.1:c.2672G>A	ENSP00000502456.1:p.Arg891Gln
ENST00000675980.1:c.2690G>A	ENSP00000502520.1:p.Arg897Gln
ENST00000676016.1:c.2571G>A	ENSP00000502412.1:n.2571G>A
ENST00000676366.1:c.2672G>A	ENSP00000501605.1:p.Arg891Gln
XM_005268004.3:c.2768G>A	XP_005268061.1:p.Arg923Gln
XM_005268004.4:c.2768G>A	XP_005268061.1:p.Arg923Gln
XM_005268005.3:c.2768G>A	XP_005268062.1:p.Arg923Gln
XM_005268005.4:c.2768G>A	XP_005268062.1:p.Arg923Gln
XM_017021595.1:c.2768G>A	XP_016877084.1:p.Arg923Gln
XR_943507.1:n.2897G>A