Canonical Allele Identifier: CA169340009

Gene: EN2

Linked Data

• dbSNP Id: rs1015529249
• gnomAD v2: 7-155253896-CAG-C
• gnomAD v3: 7-155461201-CAG-C
• gnomAD v4: 7-155461201-CAG-C
• MyVariant Identifiers: chr7:g.155253897_155253898del (hg19) ; chr7:g.155461202_155461203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155461202_155461203del , CM000669.2:g.155461202_155461203del	GRCh38
NC_000007.13:g.155253897_155253898del , CM000669.1:g.155253897_155253898del	GRCh37
NC_000007.12:g.154946658_154946659del	NCBI36
NG_007124.1:g.9483_9484del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-1169_686-1168del MANE Select	ENSP00000297375.4:n.686-1169_686-1168del
NM_001427.3:c.686-1169_686-1168del	NP_001418.2:n.686-1169_686-1168del
NM_001427.4:c.686-1169_686-1168del MANE Select	NP_001418.2:n.686-1169_686-1168del