Canonical Allele Identifier: CA1568991
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs199612370
ExAC: 2:27308081 C / G
gnomAD v2: 2-27308081-C-G
gnomAD v3: 2-27085213-C-G
gnomAD v4: 2-27085213-C-G
MyVariant Identifiers: chr2:g.27308081C>G (hg19) chr2:g.27085213C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085213C>G , CM000664.2:g.27085213C>G GRCh38
NC_000002.11:g.27308081C>G , CM000664.1:g.27308081C>G GRCh37
NC_000002.10:g.27161585C>G NCBI36
NG_012199.1:g.3471C>G
NG_046849.1:g.11647C>G
NG_012199.2:g.3471C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2629C>G MANE Select ENSP00000369677.4:p.Leu877Val
ENST00000380320.8:c.2629C>G ENSP00000369677.4:p.Leu877Val
ENST00000433140.1:c.621C>G
NM_007046.3:c.2629C>G NP_008977.1:p.Leu877Val
XM_006711928.2:c.2575+205C>G XP_006711991.1:n.2575+205C>G
NM_007046.4:c.2629C>G MANE Select NP_008977.1:p.Leu877Val
Search 100 bp 5'
Search 100 bp 3'