Canonical Allele Identifier: CA835663643
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1304741467
gnomAD v3: 7-155463229-G-T
gnomAD v4: 7-155463229-G-T
MyVariant Identifiers: chr7:g.155255924G>T (hg19) chr7:g.155463229G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155463229G>T , CM000669.2:g.155463229G>T GRCh38
NC_000007.13:g.155255924G>T , CM000669.1:g.155255924G>T GRCh37
NC_000007.12:g.154948685G>T NCBI36
NG_007124.1:g.11510G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.*542G>T MANE Select ENSP00000297375.4:n.*542G>T
NM_001427.3:c.*542G>T NP_001418.2:n.*542G>T
NM_001427.4:c.*542G>T MANE Select NP_001418.2:n.*542G>T
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