Canonical Allele Identifier: CA346156273
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1472940418
gnomAD v3: 2-27085252-G-A
gnomAD v4: 2-27085252-G-A
MyVariant Identifiers: chr2:g.27308120G>A (hg19) chr2:g.27085252G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085252G>A , CM000664.2:g.27085252G>A GRCh38
NC_000002.11:g.27308120G>A , CM000664.1:g.27308120G>A GRCh37
NC_000002.10:g.27161624G>A NCBI36
NG_012199.1:g.3510G>A
NG_046849.1:g.11686G>A
NG_012199.2:g.3510G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2668G>A MANE Select ENSP00000369677.4:p.Asp890Asn
ENST00000380320.8:c.2668G>A ENSP00000369677.4:p.Asp890Asn
ENST00000433140.1:c.660G>A
NM_007046.3:c.2668G>A NP_008977.1:p.Asp890Asn
XM_006711928.2:c.2575+244G>A XP_006711991.1:n.2575+244G>A
NM_007046.4:c.2668G>A MANE Select NP_008977.1:p.Asp890Asn
Search 100 bp 5'
Search 100 bp 3'