Canonical Allele Identifier: CA7373149
Community Standard Title: NM_022489.4(INF2):c.3013A>G (p.Met1005Val)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104713579A>G , CM000676.2:g.104713579A>G GRCh38
NC_000014.8:g.105179916A>G , CM000676.1:g.105179916A>G GRCh37
NC_000014.7:g.104250961A>G NCBI36
NG_027684.1:g.28974A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.3013A>G MANE Select NP_071934.3:p.Met1005Val
ENST00000392634.9:c.3013A>G MANE Select ENSP00000376410.4:p.Met1005Val
NM_001031714.3:c.3013A>G NP_001026884.3:p.Met1005Val
NM_001031714.4:c.3013A>G NP_001026884.3:p.Met1005Val
NM_022489.3:c.3013A>G NP_071934.3:p.Met1005Val
ENST00000252527.8:c.1417A>G ENSP00000252527.8:p.Met473Val
ENST00000330634.11:c.3013A>G ENSP00000376406.3:p.Met1005Val
ENST00000392634.8:c.3013A>G ENSP00000376410.4:p.Met1005Val
ENST00000477497.1:n.518A>G
ENST00000617571.4:c.-1121A>G ENSP00000483829.1:n.-1121A>G
ENST00000617571.5:c.3009A>G ENSP00000483829.2:p.Pro1003=
ENST00000674520.1:c.3008A>G ENSP00000502593.1:n.3008A>G
ENST00000674631.1:c.1051A>G ENSP00000502830.1:p.Met351Val
ENST00000674662.1:c.3017A>G ENSP00000501895.1:n.3017A>G
ENST00000674757.1:c.3018A>G ENSP00000502202.1:p.Pro1006=
ENST00000674822.1:c.2897A>G ENSP00000501552.1:n.2897A>G
ENST00000674846.1:c.3008A>G ENSP00000502431.1:n.3008A>G
ENST00000674857.1:c.3002A>G ENSP00000501687.1:n.3002A>G
ENST00000674960.1:c.2871A>G ENSP00000501841.1:n.2871A>G
ENST00000674991.1:c.2263A>G ENSP00000502004.1:p.Met755Val
ENST00000674994.1:c.2979A>G ENSP00000502442.1:n.2979A>G
ENST00000675207.1:c.3109A>G ENSP00000502644.1:p.Met1037Val
ENST00000675329.1:c.2989A>G ENSP00000502287.1:p.Met997Val
ENST00000675481.1:c.3013A>G ENSP00000502723.1:p.Met1005Val
ENST00000675583.1:c.2942A>G ENSP00000501740.1:n.2942A>G
ENST00000675603.1:n.140A>G
ENST00000675638.1:c.3013A>G ENSP00000501647.1:p.Met1005Val
ENST00000675724.1:c.2951A>G ENSP00000502576.1:n.2951A>G
ENST00000675771.1:c.2276A>G ENSP00000502104.1:n.2276A>G
ENST00000675797.1:c.2418A>G ENSP00000502023.1:n.2418A>G
ENST00000675809.1:c.3068A>G ENSP00000502587.1:n.3068A>G
ENST00000675930.1:c.3013A>G ENSP00000502456.1:p.Met1005Val
ENST00000675980.1:c.3031A>G ENSP00000502520.1:p.Met1011Val
ENST00000676016.1:c.2912A>G ENSP00000502412.1:n.2912A>G
ENST00000676366.1:c.3013A>G ENSP00000501605.1:p.Met1005Val
XM_005268004.3:c.3109A>G XP_005268061.1:p.Met1037Val
XM_005268004.4:c.3109A>G XP_005268061.1:p.Met1037Val
XM_005268005.3:c.3109A>G XP_005268062.1:p.Met1037Val
XM_005268005.4:c.3109A>G XP_005268062.1:p.Met1037Val
XM_017021595.1:c.3109A>G XP_016877084.1:p.Met1037Val
XR_943507.1:n.3238A>G