Canonical Allele Identifier: CA628042555
Gene: EMILIN2 HGNC NCBI

Linked Data

dbSNP Id: rs891880728
gnomAD v2: 18-2865542-T-C
gnomAD v3: 18-2865544-T-C
gnomAD v4: 18-2865544-T-C
MyVariant Identifiers: chr18:g.2865542T>C (hg19) chr18:g.2865544T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2865544T>C , CM000680.2:g.2865544T>C GRCh38
NC_000018.9:g.2865542T>C , CM000680.1:g.2865542T>C GRCh37
NC_000018.8:g.2855542T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254528.4:c.257+17613T>C MANE Select ENSP00000254528.3:n.257+17613T>C
ENST00000254528.3:c.257+17613T>C ENSP00000254528.3:n.257+17613T>C
NM_032048.2:c.257+17613T>C NP_114437.2:n.257+17613T>C
XM_011525747.1:c.380+17613T>C XP_011524049.1:n.380+17613T>C
XM_011525748.1:c.380+17613T>C XP_011524050.1:n.380+17613T>C
XR_935070.1:n.699+17613T>C
XM_017026038.2:c.257+17613T>C XP_016881527.1:n.257+17613T>C
NM_032048.3:c.257+17613T>C MANE Select NP_114437.2:n.257+17613T>C
Search 100 bp 5'
Search 100 bp 3'