Canonical Allele Identifier: CA835693237

Gene: EN2

Linked Data

• dbSNP Id: rs1220534996
• gnomAD v3: 7-155461016-AC-A
• gnomAD v4: 7-155461016-AC-A
• MyVariant Identifiers: chr7:g.155253712del (hg19) ; chr7:g.155461017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155461019del , CM000669.2:g.155461019del	GRCh38
NC_000007.13:g.155253714del , CM000669.1:g.155253714del	GRCh37
NC_000007.12:g.154946475del	NCBI36
NG_007124.1:g.9300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297375.4:c.686-1352del MANE Select	ENSP00000297375.4:n.686-1352del
NM_001427.3:c.686-1352del	NP_001418.2:n.686-1352del
NM_001427.4:c.686-1352del MANE Select	NP_001418.2:n.686-1352del