Canonical Allele Identifier: CA578797160

Gene: EN2

Linked Data

• dbSNP Id: rs1329258963
• gnomAD v2: 7-155254019-A-C
• gnomAD v3: 7-155461324-A-C
• gnomAD v4: 7-155461324-A-C
• MyVariant Identifiers: chr7:g.155254019A>C (hg19) ; chr7:g.155461324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155461324A>C , CM000669.2:g.155461324A>C	GRCh38
NC_000007.13:g.155254019A>C , CM000669.1:g.155254019A>C	GRCh37
NC_000007.12:g.154946780A>C	NCBI36
NG_007124.1:g.9605A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-1047A>C MANE Select	ENSP00000297375.4:n.686-1047A>C
NM_001427.3:c.686-1047A>C	NP_001418.2:n.686-1047A>C
NM_001427.4:c.686-1047A>C MANE Select	NP_001418.2:n.686-1047A>C