Canonical Allele Identifier: CA7372875

Gene: INF2

Linked Data

• ClinVar Variation Id: 383882
• ClinVar RCV Id: RCV000428781 ; RCV002062658
• dbSNP Id: rs765264633
• ExAC: 14:105177269 T / C
• gnomAD v2: 14-105177269-T-C
• gnomAD v3: 14-104710932-T-C
• gnomAD v4: 14-104710932-T-C
• MyVariant Identifiers: chr14:g.105177269T>C (hg19) ; chr14:g.104710932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104710932T>C , CM000676.2:g.104710932T>C	GRCh38
NC_000014.8:g.105177269T>C , CM000676.1:g.105177269T>C	GRCh37
NC_000014.7:g.104248314T>C	NCBI36
NG_027684.1:g.26327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.2240-5T>C MANE Select	ENSP00000376410.4:n.2240-5T>C
ENST00000617571.5:c.2240-5T>C	ENSP00000483829.2:n.2240-5T>C
ENST00000674520.1:c.2240-5T>C	ENSP00000502593.1:n.2240-5T>C
ENST00000674631.1:c.278-5T>C	ENSP00000502830.1:n.278-5T>C
ENST00000674662.1:c.2240-5T>C	ENSP00000501895.1:n.2240-5T>C
ENST00000674757.1:c.2240-5T>C	ENSP00000502202.1:n.2240-5T>C
ENST00000674822.1:c.2124-5T>C	ENSP00000501552.1:n.2124-5T>C
ENST00000674846.1:c.2240-5T>C	ENSP00000502431.1:n.2240-5T>C
ENST00000674857.1:c.2229-5T>C	ENSP00000501687.1:n.2229-5T>C
ENST00000674960.1:c.2098-5T>C	ENSP00000501841.1:n.2098-5T>C
ENST00000674991.1:c.1490-5T>C	ENSP00000502004.1:n.1490-5T>C
ENST00000674994.1:c.2206-5T>C	ENSP00000502442.1:n.2206-5T>C
ENST00000675207.1:c.2336-5T>C	ENSP00000502644.1:n.2336-5T>C
ENST00000675329.1:c.2216-5T>C	ENSP00000502287.1:n.2216-5T>C
ENST00000675481.1:c.2240-5T>C	ENSP00000502723.1:n.2240-5T>C
ENST00000675583.1:c.2240-147T>C	ENSP00000501740.1:n.2240-147T>C
ENST00000675638.1:c.2240-5T>C	ENSP00000501647.1:n.2240-5T>C
ENST00000675724.1:c.2178-5T>C	ENSP00000502576.1:n.2178-5T>C
ENST00000675771.1:c.1503-5T>C	ENSP00000502104.1:n.1503-5T>C
ENST00000675797.1:c.1645-5T>C	ENSP00000502023.1:n.1645-5T>C
ENST00000675809.1:c.2290T>C	ENSP00000502587.1:p.Cys764Arg
ENST00000675930.1:c.2240-5T>C	ENSP00000502456.1:n.2240-5T>C
ENST00000675980.1:c.2253T>C	ENSP00000502520.1:p.Pro751=
ENST00000676016.1:c.2139-5T>C	ENSP00000502412.1:n.2139-5T>C
ENST00000676366.1:c.2240-5T>C	ENSP00000501605.1:n.2240-5T>C
ENST00000252527.8:c.644-5T>C	ENSP00000252527.8:n.644-5T>C
ENST00000330634.11:c.2240-5T>C	ENSP00000376406.3:n.2240-5T>C
ENST00000392634.8:c.2240-5T>C	ENSP00000376410.4:n.2240-5T>C
ENST00000474229.1:n.733-5T>C
ENST00000480763.2:n.208T>C
ENST00000617571.4:c.-1879-91T>C	ENSP00000483829.1:n.-1879-91T>C
NM_001031714.3:c.2240-5T>C	NP_001026884.3:n.2240-5T>C
NM_022489.3:c.2240-5T>C	NP_071934.3:n.2240-5T>C
XM_005268004.3:c.2336-5T>C	XP_005268061.1:n.2336-5T>C
XM_005268005.3:c.2336-5T>C	XP_005268062.1:n.2336-5T>C
XR_943507.1:n.2465-5T>C
XM_005268004.4:c.2336-5T>C	XP_005268061.1:n.2336-5T>C
XM_005268005.4:c.2336-5T>C	XP_005268062.1:n.2336-5T>C
XM_017021595.1:c.2336-5T>C	XP_016877084.1:n.2336-5T>C
XR_001750518.1:n.2491T>C
NM_001031714.4:c.2240-5T>C	NP_001026884.3:n.2240-5T>C
NM_022489.4:c.2240-5T>C MANE Select	NP_071934.3:n.2240-5T>C