Canonical Allele Identifier: CA1569004
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs761268599
ExAC: 2:27308156 C / G
gnomAD v2: 2-27308156-C-G
gnomAD v3: 2-27085288-C-G
gnomAD v4: 2-27085288-C-G
MyVariant Identifiers: chr2:g.27308156C>G (hg19) chr2:g.27085288C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085288C>G , CM000664.2:g.27085288C>G GRCh38
NC_000002.11:g.27308156C>G , CM000664.1:g.27308156C>G GRCh37
NC_000002.10:g.27161660C>G NCBI36
NG_012199.1:g.3546C>G
NG_046849.1:g.11722C>G
NG_012199.2:g.3546C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2704C>G MANE Select ENSP00000369677.4:p.Pro902Ala
ENST00000380320.8:c.2704C>G ENSP00000369677.4:p.Pro902Ala
ENST00000433140.1:c.696C>G
NM_007046.3:c.2704C>G NP_008977.1:p.Pro902Ala
XM_006711928.2:c.2575+280C>G XP_006711991.1:n.2575+280C>G
NM_007046.4:c.2704C>G MANE Select NP_008977.1:p.Pro902Ala
Search 100 bp 5'
Search 100 bp 3'