Canonical Allele Identifier: CA1568956
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs772006280
ExAC: 2:27307810 T / G
gnomAD v2: 2-27307810-T-G
gnomAD v4: 2-27084942-T-G
MyVariant Identifiers: chr2:g.27307810T>G (hg19) chr2:g.27084942T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084942T>G , CM000664.2:g.27084942T>G GRCh38
NC_000002.11:g.27307810T>G , CM000664.1:g.27307810T>G GRCh37
NC_000002.10:g.27161314T>G NCBI36
NG_012199.1:g.3200T>G
NG_046849.1:g.11376T>G
NG_012199.2:g.3200T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2558-49T>G MANE Select ENSP00000369677.4:n.2558-49T>G
ENST00000380320.8:c.2558-49T>G ENSP00000369677.4:n.2558-49T>G
ENST00000433140.1:c.550-49T>G
NM_007046.3:c.2558-49T>G NP_008977.1:n.2558-49T>G
XM_006711928.2:c.2558-49T>G XP_006711991.1:n.2558-49T>G
NM_007046.4:c.2558-49T>G MANE Select NP_008977.1:n.2558-49T>G
Search 100 bp 5'
Search 100 bp 3'