Canonical Allele Identifier: CA425382171
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1213596656
gnomAD v2: 2-27308056-G-A
gnomAD v4: 2-27085188-G-A
MyVariant Identifiers: chr2:g.27308056G>A (hg19) chr2:g.27085188G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085188G>A , CM000664.2:g.27085188G>A GRCh38
NC_000002.11:g.27308056G>A , CM000664.1:g.27308056G>A GRCh37
NC_000002.10:g.27161560G>A NCBI36
NG_012199.1:g.3446G>A
NG_046849.1:g.11622G>A
NG_012199.2:g.3446G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2604G>A MANE Select ENSP00000369677.4:p.Val868=
ENST00000380320.8:c.2604G>A ENSP00000369677.4:p.Val868=
ENST00000433140.1:c.596G>A
NM_007046.3:c.2604G>A NP_008977.1:p.Val868=
XM_006711928.2:c.2575+180G>A XP_006711991.1:n.2575+180G>A
NM_007046.4:c.2604G>A MANE Select NP_008977.1:p.Val868=
Search 100 bp 5'
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