Canonical Allele Identifier: CA425382177
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1407466196
gnomAD v2: 2-27308065-G-A
gnomAD v4: 2-27085197-G-A
MyVariant Identifiers: chr2:g.27308065G>A (hg19) chr2:g.27085197G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085197G>A , CM000664.2:g.27085197G>A GRCh38
NC_000002.11:g.27308065G>A , CM000664.1:g.27308065G>A GRCh37
NC_000002.10:g.27161569G>A NCBI36
NG_012199.1:g.3455G>A
NG_046849.1:g.11631G>A
NG_012199.2:g.3455G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2613G>A MANE Select ENSP00000369677.4:p.Val871=
ENST00000380320.8:c.2613G>A ENSP00000369677.4:p.Val871=
ENST00000433140.1:c.605G>A
NM_007046.3:c.2613G>A NP_008977.1:p.Val871=
XM_006711928.2:c.2575+189G>A XP_006711991.1:n.2575+189G>A
NM_007046.4:c.2613G>A MANE Select NP_008977.1:p.Val871=
Search 100 bp 5'
Search 100 bp 3'