Canonical Allele Identifier: CA835693345

Gene: EN2

Linked Data

• dbSNP Id: rs1262465446
• gnomAD v3: 7-155461212-G-T
• gnomAD v4: 7-155461212-G-T
• MyVariant Identifiers: chr7:g.155253907G>T (hg19) ; chr7:g.155461212G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155461212G>T , CM000669.2:g.155461212G>T	GRCh38
NC_000007.13:g.155253907G>T , CM000669.1:g.155253907G>T	GRCh37
NC_000007.12:g.154946668G>T	NCBI36
NG_007124.1:g.9493G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-1159G>T MANE Select	ENSP00000297375.4:n.686-1159G>T
NM_001427.3:c.686-1159G>T	NP_001418.2:n.686-1159G>T
NM_001427.4:c.686-1159G>T MANE Select	NP_001418.2:n.686-1159G>T