Canonical Allele Identifier: CA391214057
Community Standard Title: NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104706120T>G , CM000676.2:g.104706120T>G GRCh38
NC_000014.8:g.105172457T>G , CM000676.1:g.105172457T>G GRCh37
NC_000014.7:g.104243502T>G NCBI36
NG_027684.1:g.21515T>G

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.787T>G MANE Select NP_071934.3:p.Ser263Ala
ENST00000392634.9:c.787T>G MANE Select ENSP00000376410.4:p.Ser263Ala
NM_001031714.3:c.787T>G NP_001026884.3:p.Ser263Ala
NM_001031714.4:c.787T>G NP_001026884.3:p.Ser263Ala
NM_022489.3:c.787T>G NP_071934.3:p.Ser263Ala
ENST00000330634.11:c.787T>G ENSP00000376406.3:p.Ser263Ala
ENST00000392634.8:c.787T>G ENSP00000376410.4:p.Ser263Ala
ENST00000617571.5:c.787T>G ENSP00000483829.2:p.Ser263Ala
ENST00000674520.1:c.787T>G ENSP00000502593.1:p.Ser263Ala
ENST00000674662.1:c.787T>G ENSP00000501895.1:p.Ser263Ala
ENST00000674757.1:c.787T>G ENSP00000502202.1:p.Ser263Ala
ENST00000674822.1:c.671T>G ENSP00000501552.1:n.671T>G
ENST00000674846.1:c.787T>G ENSP00000502431.1:p.Ser263Ala
ENST00000674857.1:c.776T>G ENSP00000501687.1:n.776T>G
ENST00000674960.1:c.787T>G ENSP00000501841.1:p.Ser263Ala
ENST00000674991.1:c.787T>G ENSP00000502004.1:p.Ser263Ala
ENST00000674994.1:c.753T>G ENSP00000502442.1:n.753T>G
ENST00000675207.1:c.883T>G ENSP00000502644.1:p.Ser295Ala
ENST00000675329.1:c.787T>G ENSP00000502287.1:p.Ser263Ala
ENST00000675481.1:c.787T>G ENSP00000502723.1:p.Ser263Ala
ENST00000675583.1:c.787T>G ENSP00000501740.1:p.Ser263Ala
ENST00000675638.1:c.787T>G ENSP00000501647.1:p.Ser263Ala
ENST00000675724.1:c.787T>G ENSP00000502576.1:p.Ser263Ala
ENST00000675771.1:c.787T>G ENSP00000502104.1:p.Ser263Ala
ENST00000675797.1:c.787T>G ENSP00000502023.1:p.Ser263Ala
ENST00000675809.1:c.787T>G ENSP00000502587.1:p.Ser263Ala
ENST00000675930.1:c.787T>G ENSP00000502456.1:p.Ser263Ala
ENST00000675980.1:c.787T>G ENSP00000502520.1:p.Ser263Ala
ENST00000676016.1:c.787T>G ENSP00000502412.1:p.Ser263Ala
ENST00000676134.1:n.86T>G
ENST00000676366.1:c.787T>G ENSP00000501605.1:p.Ser263Ala
XM_005268004.3:c.883T>G XP_005268061.1:p.Ser295Ala
XM_005268004.4:c.883T>G XP_005268061.1:p.Ser295Ala
XM_005268005.3:c.883T>G XP_005268062.1:p.Ser295Ala
XM_005268005.4:c.883T>G XP_005268062.1:p.Ser295Ala
XM_017021595.1:c.883T>G XP_016877084.1:p.Ser295Ala
XR_001750518.1:n.988T>G
XR_943507.1:n.1012T>G