Canonical Allele Identifier: CA169340140

Gene: EN2

Linked Data

• dbSNP Id: rs1041205918
• gnomAD v3: 7-155461301-G-T
• gnomAD v4: 7-155461301-G-T
• MyVariant Identifiers: chr7:g.155253996G>T (hg19) ; chr7:g.155461301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155461301G>T , CM000669.2:g.155461301G>T	GRCh38
NC_000007.13:g.155253996G>T , CM000669.1:g.155253996G>T	GRCh37
NC_000007.12:g.154946757G>T	NCBI36
NG_007124.1:g.9582G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-1070G>T MANE Select	ENSP00000297375.4:n.686-1070G>T
NM_001427.3:c.686-1070G>T	NP_001418.2:n.686-1070G>T
NM_001427.4:c.686-1070G>T MANE Select	NP_001418.2:n.686-1070G>T