Canonical Allele Identifier: CA987247064
Gene: EMILIN2 HGNC NCBI

Linked Data

dbSNP Id: rs2076681555
gnomAD v3: 18-2865414-G-C
gnomAD v4: 18-2865414-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2865414G>C , CM000680.2:g.2865414G>C GRCh38
NC_000018.9:g.2865412G>C , CM000680.1:g.2865412G>C GRCh37
NC_000018.8:g.2855412G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254528.4:c.257+17483G>C MANE Select ENSP00000254528.3:n.257+17483G>C
ENST00000254528.3:c.257+17483G>C ENSP00000254528.3:n.257+17483G>C
NM_032048.2:c.257+17483G>C NP_114437.2:n.257+17483G>C
XM_011525747.1:c.380+17483G>C XP_011524049.1:n.380+17483G>C
XM_011525748.1:c.380+17483G>C XP_011524050.1:n.380+17483G>C
XR_935070.1:n.699+17483G>C
XM_017026038.2:c.257+17483G>C XP_016881527.1:n.257+17483G>C
NM_032048.3:c.257+17483G>C MANE Select NP_114437.2:n.257+17483G>C
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