Canonical Allele Identifier: CA2280758784
Gene: EMILIN2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2865549C= , CM000680.2:g.2865549C= GRCh38
NC_000018.9:g.2865547C= , CM000680.1:g.2865547C= GRCh37
NC_000018.8:g.2855547C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254528.4:c.257+17618C= MANE Select ENSP00000254528.3:n.257+17618C=
ENST00000254528.3:c.257+17618C= ENSP00000254528.3:n.257+17618C=
NM_032048.2:c.257+17618C= NP_114437.2:n.257+17618C=
XM_011525747.1:c.380+17618C= XP_011524049.1:n.380+17618C=
XM_011525748.1:c.380+17618C= XP_011524050.1:n.380+17618C=
XR_935070.1:n.699+17618C=
XM_017026038.2:c.257+17618C= XP_016881527.1:n.257+17618C=
NM_032048.3:c.257+17618C= MANE Select NP_114437.2:n.257+17618C=
Search 100 bp 5'
Search 100 bp 3'