Canonical Allele Identifier: CA1568972
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs376414580
ExAC: 2:27307903 G / C
gnomAD v2: 2-27307903-G-C
gnomAD v4: 2-27085035-G-C
MyVariant Identifiers: chr2:g.27307903G>C (hg19) chr2:g.27085035G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085035G>C , CM000664.2:g.27085035G>C GRCh38
NC_000002.11:g.27307903G>C , CM000664.1:g.27307903G>C GRCh37
NC_000002.10:g.27161407G>C NCBI36
NG_012199.1:g.3293G>C
NG_046849.1:g.11469G>C
NG_012199.2:g.3293G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2575+27G>C MANE Select ENSP00000369677.4:n.2575+27G>C
ENST00000380320.8:c.2575+27G>C ENSP00000369677.4:n.2575+27G>C
ENST00000433140.1:c.567+27G>C
NM_007046.3:c.2575+27G>C NP_008977.1:n.2575+27G>C
XM_006711928.2:c.2575+27G>C XP_006711991.1:n.2575+27G>C
NM_007046.4:c.2575+27G>C MANE Select NP_008977.1:n.2575+27G>C
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