Canonical Allele Identifier: CA2280758757

Gene: EMILIN2

Linked Data

• dbSNP Id: rs2076681890

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2865482_2865483insT , CM000680.2:g.2865482_2865483insT	GRCh38
NC_000018.9:g.2865480_2865481insT , CM000680.1:g.2865480_2865481insT	GRCh37
NC_000018.8:g.2855480_2855481insT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254528.4:c.257+17551_257+17552insT MANE Select	ENSP00000254528.3:n.257+17551_257+17552insT
ENST00000254528.3:c.257+17551_257+17552insT	ENSP00000254528.3:n.257+17551_257+17552insT
NM_032048.2:c.257+17551_257+17552insT	NP_114437.2:n.257+17551_257+17552insT
XM_011525747.1:c.380+17551_380+17552insT	XP_011524049.1:n.380+17551_380+17552insT
XM_011525748.1:c.380+17551_380+17552insT	XP_011524050.1:n.380+17551_380+17552insT
XR_935070.1:n.699+17551_699+17552insT
XM_017026038.2:c.257+17551_257+17552insT	XP_016881527.1:n.257+17551_257+17552insT
NM_032048.3:c.257+17551_257+17552insT MANE Select	NP_114437.2:n.257+17551_257+17552insT