Canonical Allele Identifier: CA4585595
Gene: EN2 HGNC NCBI
COSMIC:
COSM3762526 (not active)
MyVariant.info:
GRCh38 chr7:g.155458738C>T
GRCh37 chr7:g.155251433C>T
Revel Score:
ENST00000297375 (MANE Select) 0.175
gnomAD v2:
7:155251433 C / T
gnomAD v3:
7:155458738 C / T
gnomAD v4:
chr7-155458738-C-T
Joint Max Group AF 0.61920303 (EAS)
Genomes Max Group AF 0.60886382 (EAS)
Exomes Max Group AF 0.61845252 (EAS)
dbSNP:
3735653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155458738C>T , CM000669.2:g.155458738C>T GRCh38
NC_000007.13:g.155251433C>T , CM000669.1:g.155251433C>T GRCh37
NC_000007.12:g.154944194C>T NCBI36
NG_007124.1:g.7019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297375.4:c.361C>T MANE Select ENSP00000297375.4:p.Leu121Phe
NM_001427.3:c.361C>T NP_001418.2:p.Leu121Phe
NM_001427.4:c.361C>T MANE Select NP_001418.2:p.Leu121Phe
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