Canonical Allele Identifier: CA346156337
Gene: EMILIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27308137T>G (hg19) chr2:g.27085269T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085269T>G , CM000664.2:g.27085269T>G GRCh38
NC_000002.11:g.27308137T>G , CM000664.1:g.27308137T>G GRCh37
NC_000002.10:g.27161641T>G NCBI36
NG_012199.1:g.3527T>G
NG_046849.1:g.11703T>G
NG_012199.2:g.3527T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2685T>G MANE Select ENSP00000369677.4:p.Asn895Lys
ENST00000380320.8:c.2685T>G ENSP00000369677.4:p.Asn895Lys
ENST00000433140.1:c.677T>G
NM_007046.3:c.2685T>G NP_008977.1:p.Asn895Lys
XM_006711928.2:c.2575+261T>G XP_006711991.1:n.2575+261T>G
NM_007046.4:c.2685T>G MANE Select NP_008977.1:p.Asn895Lys
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