Canonical Allele Identifier: CA578797159

Gene: EN2

Linked Data

• dbSNP Id: rs1431355296
• gnomAD v2: 7-155254014-C-G
• gnomAD v3: 7-155461319-C-G
• gnomAD v4: 7-155461319-C-G
• MyVariant Identifiers: chr7:g.155254014C>G (hg19) ; chr7:g.155461319C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155461319C>G , CM000669.2:g.155461319C>G	GRCh38
NC_000007.13:g.155254014C>G , CM000669.1:g.155254014C>G	GRCh37
NC_000007.12:g.154946775C>G	NCBI36
NG_007124.1:g.9600C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-1052C>G MANE Select	ENSP00000297375.4:n.686-1052C>G
NM_001427.3:c.686-1052C>G	NP_001418.2:n.686-1052C>G
NM_001427.4:c.686-1052C>G MANE Select	NP_001418.2:n.686-1052C>G