Canonical Allele Identifier: CA169340241
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs932683478
gnomAD v3: 7-155461384-T-C
gnomAD v4: 7-155461384-T-C
MyVariant Identifiers: chr7:g.155254079T>C (hg19) chr7:g.155461384T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461384T>C , CM000669.2:g.155461384T>C GRCh38
NC_000007.13:g.155254079T>C , CM000669.1:g.155254079T>C GRCh37
NC_000007.12:g.154946840T>C NCBI36
NG_007124.1:g.9665T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-987T>C MANE Select ENSP00000297375.4:n.686-987T>C
NM_001427.3:c.686-987T>C NP_001418.2:n.686-987T>C
NM_001427.4:c.686-987T>C MANE Select NP_001418.2:n.686-987T>C
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