Canonical Allele Identifier: CA7373195
Community Standard Title: NM_022489.4(INF2):c.3166G>A (p.Gly1056Ser)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104714328G>A , CM000676.2:g.104714328G>A GRCh38
NC_000014.8:g.105180665G>A , CM000676.1:g.105180665G>A GRCh37
NC_000014.7:g.104251710G>A NCBI36
NG_027684.1:g.29723G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.3166G>A MANE Select NP_071934.3:p.Gly1056Ser
ENST00000392634.9:c.3166G>A MANE Select ENSP00000376410.4:p.Gly1056Ser
NM_001031714.3:c.3166G>A NP_001026884.3:p.Gly1056Ser
NM_001031714.4:c.3166G>A NP_001026884.3:p.Gly1056Ser
NM_022489.3:c.3166G>A NP_071934.3:p.Gly1056Ser
ENST00000252527.8:c.1570G>A ENSP00000252527.8:p.Gly524Ser
ENST00000330634.11:c.3166G>A ENSP00000376406.3:p.Gly1056Ser
ENST00000392634.8:c.3166G>A ENSP00000376410.4:p.Gly1056Ser
ENST00000617571.4:c.-968G>A ENSP00000483829.1:n.-968G>A
ENST00000617571.5:c.3162G>A ENSP00000483829.2:n.3162G>A
ENST00000674520.1:c.3161G>A ENSP00000502593.1:n.3161G>A
ENST00000674631.1:c.1204G>A ENSP00000502830.1:p.Gly402Ser
ENST00000674662.1:c.3170G>A ENSP00000501895.1:n.3170G>A
ENST00000674757.1:c.3171G>A ENSP00000502202.1:n.3171G>A
ENST00000674822.1:c.3050G>A ENSP00000501552.1:n.3050G>A
ENST00000674846.1:c.3161G>A ENSP00000502431.1:n.3161G>A
ENST00000674857.1:c.3155G>A ENSP00000501687.1:n.3155G>A
ENST00000674960.1:c.3024G>A ENSP00000501841.1:n.3024G>A
ENST00000674991.1:c.2416G>A ENSP00000502004.1:p.Gly806Ser
ENST00000675207.1:c.3262G>A ENSP00000502644.1:p.Gly1088Ser
ENST00000675329.1:c.3142G>A ENSP00000502287.1:p.Gly1048Ser
ENST00000675481.1:c.3166G>A ENSP00000502723.1:p.Gly1056Ser
ENST00000675583.1:c.3095G>A ENSP00000501740.1:n.3095G>A
ENST00000675603.1:n.406G>A
ENST00000675638.1:c.3085G>A ENSP00000501647.1:p.Gly1029Ser
ENST00000675724.1:c.3104G>A ENSP00000502576.1:n.3104G>A
ENST00000675771.1:c.2429G>A ENSP00000502104.1:n.2429G>A
ENST00000675797.1:c.2571G>A ENSP00000502023.1:n.2571G>A
ENST00000675809.1:c.3221G>A ENSP00000502587.1:n.3221G>A
ENST00000675930.1:c.3166G>A ENSP00000502456.1:p.Gly1056Ser
ENST00000675980.1:c.3184G>A ENSP00000502520.1:p.Gly1062Ser
ENST00000676016.1:c.3065G>A ENSP00000502412.1:n.3065G>A
ENST00000676366.1:c.3166G>A ENSP00000501605.1:p.Gly1056Ser
XM_005268004.3:c.3262G>A XP_005268061.1:p.Gly1088Ser
XM_005268004.4:c.3262G>A XP_005268061.1:p.Gly1088Ser
XM_005268005.3:c.3262G>A XP_005268062.1:p.Gly1088Ser
XM_005268005.4:c.3262G>A XP_005268062.1:p.Gly1088Ser
XM_017021595.1:c.3262G>A XP_016877084.1:p.Gly1088Ser
XR_943507.1:n.3391G>A