Canonical Allele Identifier: CA835693268
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1478674888
gnomAD v3: 7-155461121-A-G
gnomAD v4: 7-155461121-A-G
MyVariant Identifiers: chr7:g.155253816A>G (hg19) chr7:g.155461121A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461121A>G , CM000669.2:g.155461121A>G GRCh38
NC_000007.13:g.155253816A>G , CM000669.1:g.155253816A>G GRCh37
NC_000007.12:g.154946577A>G NCBI36
NG_007124.1:g.9402A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1250A>G MANE Select ENSP00000297375.4:n.686-1250A>G
NM_001427.3:c.686-1250A>G NP_001418.2:n.686-1250A>G
NM_001427.4:c.686-1250A>G MANE Select NP_001418.2:n.686-1250A>G
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