Canonical Allele Identifier: CA7372822

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104709654C>T , CM000676.2:g.104709654C>T	GRCh38
NC_000014.8:g.105175991C>T , CM000676.1:g.105175991C>T	GRCh37
NC_000014.7:g.104247036C>T	NCBI36
NG_027684.1:g.25049C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2087C>T MANE Select	NP_071934.3:p.Ala696Val
ENST00000392634.9:c.2087C>T MANE Select	ENSP00000376410.4:p.Ala696Val
NM_001031714.3:c.2087C>T	NP_001026884.3:p.Ala696Val
NM_001031714.4:c.2087C>T	NP_001026884.3:p.Ala696Val
NM_022489.3:c.2087C>T	NP_071934.3:p.Ala696Val
ENST00000252527.8:c.491C>T	ENSP00000252527.8:p.Ala164Val
ENST00000330634.11:c.2087C>T	ENSP00000376406.3:p.Ala696Val
ENST00000392634.8:c.2087C>T	ENSP00000376410.4:p.Ala696Val
ENST00000474229.1:n.580C>T
ENST00000617571.4:c.-2037C>T	ENSP00000483829.1:n.-2037C>T
ENST00000617571.5:c.2087C>T	ENSP00000483829.2:p.Ala696Val
ENST00000674520.1:c.2087C>T	ENSP00000502593.1:p.Ala696Val
ENST00000674631.1:c.125C>T	ENSP00000502830.1:p.Ala42Val
ENST00000674662.1:c.2087C>T	ENSP00000501895.1:p.Ala696Val
ENST00000674757.1:c.2087C>T	ENSP00000502202.1:p.Ala696Val
ENST00000674822.1:c.1971C>T	ENSP00000501552.1:n.1971C>T
ENST00000674846.1:c.2087C>T	ENSP00000502431.1:p.Ala696Val
ENST00000674857.1:c.2076C>T	ENSP00000501687.1:n.2076C>T
ENST00000674960.1:c.1945C>T	ENSP00000501841.1:n.1945C>T
ENST00000674991.1:c.1337C>T	ENSP00000502004.1:p.Ala446Val
ENST00000674994.1:c.2053C>T	ENSP00000502442.1:n.2053C>T
ENST00000675207.1:c.2183C>T	ENSP00000502644.1:p.Ala728Val
ENST00000675329.1:c.2063C>T	ENSP00000502287.1:p.Ala688Val
ENST00000675481.1:c.2087C>T	ENSP00000502723.1:p.Ala696Val
ENST00000675583.1:c.2087C>T	ENSP00000501740.1:p.Ala696Val
ENST00000675638.1:c.2087C>T	ENSP00000501647.1:p.Ala696Val
ENST00000675724.1:c.2025C>T	ENSP00000502576.1:n.2025C>T
ENST00000675771.1:c.1350C>T	ENSP00000502104.1:n.1350C>T
ENST00000675797.1:c.1492C>T	ENSP00000502023.1:n.1492C>T
ENST00000675809.1:c.2087C>T	ENSP00000502587.1:p.Ala696Val
ENST00000675930.1:c.2087C>T	ENSP00000502456.1:p.Ala696Val
ENST00000675980.1:c.2087C>T	ENSP00000502520.1:p.Ala696Val
ENST00000676016.1:c.2087C>T	ENSP00000502412.1:p.Ala696Val
ENST00000676366.1:c.2087C>T	ENSP00000501605.1:p.Ala696Val
XM_005268004.3:c.2183C>T	XP_005268061.1:p.Ala728Val
XM_005268004.4:c.2183C>T	XP_005268061.1:p.Ala728Val
XM_005268005.3:c.2183C>T	XP_005268062.1:p.Ala728Val
XM_005268005.4:c.2183C>T	XP_005268062.1:p.Ala728Val
XM_017021595.1:c.2183C>T	XP_016877084.1:p.Ala728Val
XR_001750518.1:n.2288C>T
XR_943507.1:n.2312C>T