Canonical Allele Identifier: CA2171551
Gene: NGEF HGNC NCBI
COSMIC:
COSM1017917
COSM1591956
COSM4874835 (not active)
MyVariant.info:
GRCh38 chr2:g.232892941C>T
GRCh37 chr2:g.233757651C>T
Revel Score:
ENST00000420650 0.076
ENST00000264051 (MANE Select) 0.236
ENST00000373552 0.236
ENST00000541023 0.236
ENST00000539537 0.236
ENST00000416114 0.236
ENST00000458735 0.236
gnomAD v2:
2:233757651 C / T
gnomAD v3:
2:232892941 C / T
gnomAD v4:
chr2-232892941-C-T
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV004135953
ClinVar Variation:
2281604
dbSNP:
368820247
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232892941C>T , CM000664.2:g.232892941C>T GRCh38
NC_000002.11:g.233757651C>T , CM000664.1:g.233757651C>T GRCh37
NC_000002.10:g.233465895C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264051.8:c.1099G>A MANE Select ENSP00000264051.3:p.Val367Ile
ENST00000264051.7:c.1099G>A ENSP00000264051.3:p.Val367Ile
ENST00000373552.8:c.823G>A ENSP00000362653.4:p.Val275Ile
ENST00000416114.3:c.268G>A ENSP00000401063.1:p.Val90Ile
ENST00000420650.2:n.476G>A
NM_001114090.1:c.823G>A NP_001107562.1:p.Val275Ile
NM_019850.2:c.1099G>A NP_062824.2:p.Val367Ile
XM_011510923.1:c.1099G>A XP_011509225.1:p.Val367Ile
XM_011510924.1:c.268G>A XP_011509226.1:p.Val90Ile
XM_011510925.1:c.268G>A XP_011509227.1:p.Val90Ile
XM_011510923.3:c.1099G>A XP_011509225.1:p.Val367Ile
NM_019850.3:c.1099G>A MANE Select NP_062824.2:p.Val367Ile
NM_001114090.2:c.823G>A NP_001107562.1:p.Val275Ile
Search 100 bp 5'
Search 100 bp 3'