Canonical Allele Identifier: CA425382212
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1233097901
gnomAD v2: 2-27308101-A-G
gnomAD v4: 2-27085233-A-G
MyVariant Identifiers: chr2:g.27308101A>G (hg19) chr2:g.27085233A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085233A>G , CM000664.2:g.27085233A>G GRCh38
NC_000002.11:g.27308101A>G , CM000664.1:g.27308101A>G GRCh37
NC_000002.10:g.27161605A>G NCBI36
NG_012199.1:g.3491A>G
NG_046849.1:g.11667A>G
NG_012199.2:g.3491A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2649A>G MANE Select ENSP00000369677.4:p.Glu883=
ENST00000380320.8:c.2649A>G ENSP00000369677.4:p.Glu883=
ENST00000433140.1:c.641A>G
NM_007046.3:c.2649A>G NP_008977.1:p.Glu883=
XM_006711928.2:c.2575+225A>G XP_006711991.1:n.2575+225A>G
NM_007046.4:c.2649A>G MANE Select NP_008977.1:p.Glu883=
Search 100 bp 5'
Search 100 bp 3'