Canonical Allele Identifier: CA126742

Gene: EN2

Linked Data

• ClinVar Variation Id: 16632
• ClinVar RCV Id: RCV000018111
• dbSNP Id: rs1861973
• gnomAD v2: 7-155254145-T-C
• gnomAD v3: 7-155461450-T-C
• gnomAD v4: 7-155461450-T-C
• MyVariant Identifiers: chr7:g.155254145T>C (hg19) ; chr7:g.155461450T>C (hg38)
• PubMed: PMID:15024396 ; PMID:16252243

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155461450T>C , CM000669.2:g.155461450T>C	GRCh38
NC_000007.13:g.155254145T>C , CM000669.1:g.155254145T>C	GRCh37
NC_000007.12:g.154946906T>C	NCBI36
NG_007124.1:g.9731T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-921T>C MANE Select	ENSP00000297375.4:n.686-921T>C
NM_001427.3:c.686-921T>C	NP_001418.2:n.686-921T>C
NM_001427.4:c.686-921T>C MANE Select	NP_001418.2:n.686-921T>C