Canonical Allele Identifier: CA531422397
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1238809671
gnomAD v2: 2-27307807-G-T
gnomAD v3: 2-27084939-G-T
gnomAD v4: 2-27084939-G-T
MyVariant Identifiers: chr2:g.27307807G>T (hg19) chr2:g.27084939G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27084939G>T , CM000664.2:g.27084939G>T GRCh38
NC_000002.11:g.27307807G>T , CM000664.1:g.27307807G>T GRCh37
NC_000002.10:g.27161311G>T NCBI36
NG_012199.1:g.3197G>T
NG_046849.1:g.11373G>T
NG_012199.2:g.3197G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380320.9:c.2558-52G>T MANE Select ENSP00000369677.4:n.2558-52G>T
ENST00000380320.8:c.2558-52G>T ENSP00000369677.4:n.2558-52G>T
ENST00000433140.1:c.550-52G>T
NM_007046.3:c.2558-52G>T NP_008977.1:n.2558-52G>T
XM_006711928.2:c.2558-52G>T XP_006711991.1:n.2558-52G>T
NM_007046.4:c.2558-52G>T MANE Select NP_008977.1:n.2558-52G>T
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