Canonical Allele Identifier: CA391213230

Gene: INF2

Linked Data

• ClinVar Variation Id: 1344641
• ClinVar RCV Id: RCV001849642
• dbSNP Id: rs2140648160
• MyVariant Identifiers: chr14:g.105169666T>G (hg19) ; chr14:g.104703329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104703329T>G , CM000676.2:g.104703329T>G	GRCh38
NC_000014.8:g.105169666T>G , CM000676.1:g.105169666T>G	GRCh37
NC_000014.7:g.104240711T>G	NCBI36
NG_027684.1:g.18724T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392634.9:c.542T>G MANE Select	ENSP00000376410.4:p.Val181Gly
ENST00000617571.5:c.542T>G	ENSP00000483829.2:p.Val181Gly
ENST00000674520.1:c.542T>G	ENSP00000502593.1:p.Val181Gly
ENST00000674662.1:c.542T>G	ENSP00000501895.1:p.Val181Gly
ENST00000674757.1:c.542T>G	ENSP00000502202.1:p.Val181Gly
ENST00000674822.1:c.426T>G	ENSP00000501552.1:p.Cys142Trp
ENST00000674846.1:c.542T>G	ENSP00000502431.1:p.Val181Gly
ENST00000674857.1:c.531T>G	ENSP00000501687.1:p.Cys177Trp
ENST00000674960.1:c.542T>G	ENSP00000501841.1:p.Val181Gly
ENST00000674991.1:c.542T>G	ENSP00000502004.1:p.Val181Gly
ENST00000674994.1:c.542T>G	ENSP00000502442.1:p.Val181Gly
ENST00000675029.1:n.744T>G
ENST00000675207.1:c.638T>G	ENSP00000502644.1:p.Val213Gly
ENST00000675329.1:c.542T>G	ENSP00000502287.1:p.Val181Gly
ENST00000675481.1:c.542T>G	ENSP00000502723.1:p.Val181Gly
ENST00000675583.1:c.542T>G	ENSP00000501740.1:p.Val181Gly
ENST00000675638.1:c.542T>G	ENSP00000501647.1:p.Val181Gly
ENST00000675724.1:c.542T>G	ENSP00000502576.1:p.Val181Gly
ENST00000675771.1:c.542T>G	ENSP00000502104.1:p.Val181Gly
ENST00000675797.1:c.542T>G	ENSP00000502023.1:p.Val181Gly
ENST00000675809.1:c.542T>G	ENSP00000502587.1:p.Val181Gly
ENST00000675930.1:c.542T>G	ENSP00000502456.1:p.Val181Gly
ENST00000675980.1:c.542T>G	ENSP00000502520.1:p.Val181Gly
ENST00000676016.1:c.542T>G	ENSP00000502412.1:p.Val181Gly
ENST00000676366.1:c.542T>G	ENSP00000501605.1:p.Val181Gly
ENST00000330634.11:c.542T>G	ENSP00000376406.3:p.Val181Gly
ENST00000392634.8:c.542T>G	ENSP00000376410.4:p.Val181Gly
ENST00000398337.8:c.542T>G	ENSP00000381380.4:p.Val181Gly
NM_001031714.3:c.542T>G	NP_001026884.3:p.Val181Gly
NM_022489.3:c.542T>G	NP_071934.3:p.Val181Gly
NM_032714.2:c.542T>G	NP_116103.1:p.Val181Gly
XM_005268004.3:c.638T>G	XP_005268061.1:p.Val213Gly
XM_005268005.3:c.638T>G	XP_005268062.1:p.Val213Gly
XR_943507.1:n.767T>G
XM_005268004.4:c.638T>G	XP_005268061.1:p.Val213Gly
XM_005268005.4:c.638T>G	XP_005268062.1:p.Val213Gly
XM_017021595.1:c.638T>G	XP_016877084.1:p.Val213Gly
XR_001750518.1:n.743T>G
NM_001031714.4:c.542T>G	NP_001026884.3:p.Val181Gly
NM_022489.4:c.542T>G MANE Select	NP_071934.3:p.Val181Gly
NM_032714.3:c.542T>G	NP_116103.1:p.Val181Gly