Canonical Allele Identifier: CA778147791
Gene: EMILIN2 HGNC NCBI

Linked Data

dbSNP Id: rs1475269735
MyVariant Identifiers: chr18:g.2865595A>G (hg19) chr18:g.2865597A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2865597A>G , CM000680.2:g.2865597A>G GRCh38
NC_000018.9:g.2865595A>G , CM000680.1:g.2865595A>G GRCh37
NC_000018.8:g.2855595A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254528.4:c.257+17666A>G MANE Select ENSP00000254528.3:n.257+17666A>G
ENST00000254528.3:c.257+17666A>G ENSP00000254528.3:n.257+17666A>G
NM_032048.2:c.257+17666A>G NP_114437.2:n.257+17666A>G
XM_011525747.1:c.380+17666A>G XP_011524049.1:n.380+17666A>G
XM_011525748.1:c.380+17666A>G XP_011524050.1:n.380+17666A>G
XR_935070.1:n.699+17666A>G
XM_017026038.2:c.257+17666A>G XP_016881527.1:n.257+17666A>G
NM_032048.3:c.257+17666A>G MANE Select NP_114437.2:n.257+17666A>G
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