Canonical Allele Identifier: CA778147781

Gene: EMILIN2

Linked Data

• dbSNP Id: rs1161827850
• MyVariant Identifiers: chr18:g.2865579_2865580del (hg19) ; chr18:g.2865581_2865582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2865583_2865584del , CM000680.2:g.2865583_2865584del	GRCh38
NC_000018.9:g.2865581_2865582del , CM000680.1:g.2865581_2865582del	GRCh37
NC_000018.8:g.2855581_2855582del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254528.4:c.257+17652_257+17653del MANE Select	ENSP00000254528.3:n.257+17652_257+17653del
ENST00000254528.3:c.257+17652_257+17653del	ENSP00000254528.3:n.257+17652_257+17653del
NM_032048.2:c.257+17652_257+17653del	NP_114437.2:n.257+17652_257+17653del
XM_011525747.1:c.380+17652_380+17653del	XP_011524049.1:n.380+17652_380+17653del
XM_011525748.1:c.380+17652_380+17653del	XP_011524050.1:n.380+17652_380+17653del
XR_935070.1:n.699+17652_699+17653del
XM_017026038.2:c.257+17652_257+17653del	XP_016881527.1:n.257+17652_257+17653del
NM_032048.3:c.257+17652_257+17653del MANE Select	NP_114437.2:n.257+17652_257+17653del