Canonical Allele Identifier: CA2280758768
Gene: EMILIN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2865506C= , CM000680.2:g.2865506C= GRCh38
NC_000018.9:g.2865504C= , CM000680.1:g.2865504C= GRCh37
NC_000018.8:g.2855504C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254528.4:c.257+17575C= MANE Select ENSP00000254528.3:n.257+17575C=
ENST00000254528.3:c.257+17575C= ENSP00000254528.3:n.257+17575C=
NM_032048.2:c.257+17575C= NP_114437.2:n.257+17575C=
XM_011525747.1:c.380+17575C= XP_011524049.1:n.380+17575C=
XM_011525748.1:c.380+17575C= XP_011524050.1:n.380+17575C=
XR_935070.1:n.699+17575C=
XM_017026038.2:c.257+17575C= XP_016881527.1:n.257+17575C=
NM_032048.3:c.257+17575C= MANE Select NP_114437.2:n.257+17575C=
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