Canonical Allele Identifier: CA1568998
Gene: EMILIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2295812
ClinVar RCV Id: RCV002868504
dbSNP Id: rs747930612
ExAC: 2:27308106 G / A
gnomAD v2: 2-27308106-G-A
gnomAD v3: 2-27085238-G-A
gnomAD v4: 2-27085238-G-A
MyVariant Identifiers: chr2:g.27308106G>A (hg19) chr2:g.27085238G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085238G>A , CM000664.2:g.27085238G>A GRCh38
NC_000002.11:g.27308106G>A , CM000664.1:g.27308106G>A GRCh37
NC_000002.10:g.27161610G>A NCBI36
NG_012199.1:g.3496G>A
NG_046849.1:g.11672G>A
NG_012199.2:g.3496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2654G>A MANE Select ENSP00000369677.4:p.Gly885Asp
ENST00000380320.8:c.2654G>A ENSP00000369677.4:p.Gly885Asp
ENST00000433140.1:c.646G>A
NM_007046.3:c.2654G>A NP_008977.1:p.Gly885Asp
XM_006711928.2:c.2575+230G>A XP_006711991.1:n.2575+230G>A
NM_007046.4:c.2654G>A MANE Select NP_008977.1:p.Gly885Asp
Search 100 bp 5'
Search 100 bp 3'