Canonical Allele Identifier: CA264586318
Gene: NRDE2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.90292547G>T
GRCh37 chr14:g.90758891G>T
gnomAD v2:
14:90758891 G / T
gnomAD v3:
14:90292547 G / T
gnomAD v4:
chr14-90292547-G-T
Joint Max Group AF 0.22087131 (SAS)
Genomes Max Group AF 0.19590644 (SAS)
Exomes Max Group AF 0.22243773 (SAS)
dbSNP:
2282032
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90292547G>T , CM000676.2:g.90292547G>T GRCh38
NC_000014.8:g.90758891G>T , CM000676.1:g.90758891G>T GRCh37
NC_000014.7:g.89828644G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354366.8:c.1842+150C>A MANE Select ENSP00000346335.3:n.1842+150C>A
ENST00000354366.7:c.1842+150C>A ENSP00000346335.3:n.1842+150C>A
ENST00000553409.5:c.*1367+150C>A ENSP00000451025.1:n.*1367+150C>A
ENST00000554464.1:c.579+150C>A ENSP00000452071.1:n.579+150C>A
ENST00000556189.5:c.1002+150C>A
NM_017970.3:c.1842+150C>A NP_060440.2:n.1842+150C>A
XM_011536886.1:c.1872+150C>A XP_011535188.1:n.1872+150C>A
XM_011536887.1:c.357+150C>A XP_011535189.1:n.357+150C>A
XM_011536886.2:c.1872+150C>A XP_011535188.1:n.1872+150C>A
XM_017021394.2:c.1872+150C>A XP_016876883.1:n.1872+150C>A
XM_017021395.1:c.1149+150C>A XP_016876884.1:n.1149+150C>A
XM_017021396.1:c.357+150C>A XP_016876885.1:n.357+150C>A
NM_017970.4:c.1842+150C>A MANE Select NP_060440.2:n.1842+150C>A
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