Canonical Allele Identifier: CA987247112
Gene: EMILIN2 HGNC NCBI

Linked Data

dbSNP Id: rs557554919
gnomAD v3: 18-2865558-C-A
gnomAD v4: 18-2865558-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2865558C>A , CM000680.2:g.2865558C>A GRCh38
NC_000018.9:g.2865556C>A , CM000680.1:g.2865556C>A GRCh37
NC_000018.8:g.2855556C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254528.4:c.257+17627C>A MANE Select ENSP00000254528.3:n.257+17627C>A
ENST00000254528.3:c.257+17627C>A ENSP00000254528.3:n.257+17627C>A
NM_032048.2:c.257+17627C>A NP_114437.2:n.257+17627C>A
XM_011525747.1:c.380+17627C>A XP_011524049.1:n.380+17627C>A
XM_011525748.1:c.380+17627C>A XP_011524050.1:n.380+17627C>A
XR_935070.1:n.699+17627C>A
XM_017026038.2:c.257+17627C>A XP_016881527.1:n.257+17627C>A
NM_032048.3:c.257+17627C>A MANE Select NP_114437.2:n.257+17627C>A
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