Canonical Allele Identifier: CA169340007

Gene: EN2

Linked Data

• dbSNP Id: rs73734529
• gnomAD v2: 7-155253895-A-G
• gnomAD v3: 7-155461200-A-G
• gnomAD v4: 7-155461200-A-G
• MyVariant Identifiers: chr7:g.155253895A>G (hg19) ; chr7:g.155461200A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155461200A>G , CM000669.2:g.155461200A>G	GRCh38
NC_000007.13:g.155253895A>G , CM000669.1:g.155253895A>G	GRCh37
NC_000007.12:g.154946656A>G	NCBI36
NG_007124.1:g.9481A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-1171A>G MANE Select	ENSP00000297375.4:n.686-1171A>G
NM_001427.3:c.686-1171A>G	NP_001418.2:n.686-1171A>G
NM_001427.4:c.686-1171A>G MANE Select	NP_001418.2:n.686-1171A>G