Canonical Allele Identifier: CA1568997
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs776446444
ExAC: 2:27308100 A / C
gnomAD v2: 2-27308100-A-C
MyVariant Identifiers: chr2:g.27308100A>C (hg19) chr2:g.27085232A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085232A>C , CM000664.2:g.27085232A>C GRCh38
NC_000002.11:g.27308100A>C , CM000664.1:g.27308100A>C GRCh37
NC_000002.10:g.27161604A>C NCBI36
NG_012199.1:g.3490A>C
NG_046849.1:g.11666A>C
NG_012199.2:g.3490A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2648A>C MANE Select ENSP00000369677.4:p.Glu883Ala
ENST00000380320.8:c.2648A>C ENSP00000369677.4:p.Glu883Ala
ENST00000433140.1:c.640A>C
NM_007046.3:c.2648A>C NP_008977.1:p.Glu883Ala
XM_006711928.2:c.2575+224A>C XP_006711991.1:n.2575+224A>C
NM_007046.4:c.2648A>C MANE Select NP_008977.1:p.Glu883Ala
Search 100 bp 5'
Search 100 bp 3'