Canonical Allele Identifier: CA4585696
Gene: EN2 HGNC NCBI
COSMIC:
COSM5619228 (not active)
MyVariant.info:
GRCh38 chr7:g.155462637T>C
GRCh37 chr7:g.155255332T>C
gnomAD v2:
7:155255332 T / C
gnomAD v3:
7:155462637 T / C
gnomAD v4:
chr7-155462637-T-C
Joint Max Group AF 0.46478771 (AMR)
Genomes Max Group AF 0.42233815 (AFR)
Exomes Max Group AF 0.48062205 (AMR)
ClinVar RCV:
RCV001669486
ClinVar Variation:
1260669
dbSNP:
2361689
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155462637T>C , CM000669.2:g.155462637T>C GRCh38
NC_000007.13:g.155255332T>C , CM000669.1:g.155255332T>C GRCh37
NC_000007.12:g.154948093T>C NCBI36
NG_007124.1:g.10918T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297375.4:c.952T>C MANE Select ENSP00000297375.4:p.Leu318=
NM_001427.3:c.952T>C NP_001418.2:p.Leu318=
NM_001427.4:c.952T>C MANE Select NP_001418.2:p.Leu318=
Search 100 bp 5'
Search 100 bp 3'