Canonical Allele Identifier: CA2810768398

Gene: EMILIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2865595C>T , CM000680.2:g.2865595C>T	GRCh38
NC_000018.9:g.2865593C>T , CM000680.1:g.2865593C>T	GRCh37
NC_000018.8:g.2855593C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254528.4:c.257+17664C>T MANE Select	ENSP00000254528.3:n.257+17664C>T
ENST00000254528.3:c.257+17664C>T	ENSP00000254528.3:n.257+17664C>T
NM_032048.2:c.257+17664C>T	NP_114437.2:n.257+17664C>T
XM_011525747.1:c.380+17664C>T	XP_011524049.1:n.380+17664C>T
XM_011525748.1:c.380+17664C>T	XP_011524050.1:n.380+17664C>T
XR_935070.1:n.699+17664C>T
XM_017026038.2:c.257+17664C>T	XP_016881527.1:n.257+17664C>T
NM_032048.3:c.257+17664C>T MANE Select	NP_114437.2:n.257+17664C>T