Canonical Allele Identifier: CA346156181
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1372081664
gnomAD v2: 2-27308093-C-T
gnomAD v3: 2-27085225-C-T
gnomAD v4: 2-27085225-C-T
MyVariant Identifiers: chr2:g.27308093C>T (hg19) chr2:g.27085225C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085225C>T , CM000664.2:g.27085225C>T GRCh38
NC_000002.11:g.27308093C>T , CM000664.1:g.27308093C>T GRCh37
NC_000002.10:g.27161597C>T NCBI36
NG_012199.1:g.3483C>T
NG_046849.1:g.11659C>T
NG_012199.2:g.3483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2641C>T MANE Select ENSP00000369677.4:p.Arg881Trp
ENST00000380320.8:c.2641C>T ENSP00000369677.4:p.Arg881Trp
ENST00000433140.1:c.633C>T
NM_007046.3:c.2641C>T NP_008977.1:p.Arg881Trp
XM_006711928.2:c.2575+217C>T XP_006711991.1:n.2575+217C>T
NM_007046.4:c.2641C>T MANE Select NP_008977.1:p.Arg881Trp
Search 100 bp 5'
Search 100 bp 3'