Canonical Allele Identifier: CA2280758800

Gene: EMILIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2865580_2865582delinsCAG , CM000680.2:g.2865580_2865582delinsCAG	GRCh38
NC_000018.9:g.2865578_2865580delinsCAG , CM000680.1:g.2865578_2865580delinsCAG	GRCh37
NC_000018.8:g.2855578_2855580delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254528.4:c.257+17649_257+17651delinsCAG MANE Select	ENSP00000254528.3:n.257+17649_257+17651delinsCAG
ENST00000254528.3:c.257+17649_257+17651delinsCAG	ENSP00000254528.3:n.257+17649_257+17651delinsCAG
NM_032048.2:c.257+17649_257+17651delinsCAG	NP_114437.2:n.257+17649_257+17651delinsCAG
XM_011525747.1:c.380+17649_380+17651delinsCAG	XP_011524049.1:n.380+17649_380+17651delinsCAG
XM_011525748.1:c.380+17649_380+17651delinsCAG	XP_011524050.1:n.380+17649_380+17651delinsCAG
XR_935070.1:n.699+17649_699+17651delinsCAG
XM_017026038.2:c.257+17649_257+17651delinsCAG	XP_016881527.1:n.257+17649_257+17651delinsCAG
NM_032048.3:c.257+17649_257+17651delinsCAG MANE Select	NP_114437.2:n.257+17649_257+17651delinsCAG