Canonical Allele Identifier: CA1569003
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs767764817
ExAC: 2:27308145 G / T
gnomAD v2: 2-27308145-G-T
gnomAD v4: 2-27085277-G-T
MyVariant Identifiers: chr2:g.27308145G>T (hg19) chr2:g.27085277G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085277G>T , CM000664.2:g.27085277G>T GRCh38
NC_000002.11:g.27308145G>T , CM000664.1:g.27308145G>T GRCh37
NC_000002.10:g.27161649G>T NCBI36
NG_012199.1:g.3535G>T
NG_046849.1:g.11711G>T
NG_012199.2:g.3535G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2693G>T MANE Select ENSP00000369677.4:p.Gly898Val
ENST00000380320.8:c.2693G>T ENSP00000369677.4:p.Gly898Val
ENST00000433140.1:c.685G>T
NM_007046.3:c.2693G>T NP_008977.1:p.Gly898Val
XM_006711928.2:c.2575+269G>T XP_006711991.1:n.2575+269G>T
NM_007046.4:c.2693G>T MANE Select NP_008977.1:p.Gly898Val
Search 100 bp 5'
Search 100 bp 3'