Canonical Allele Identifier: CA767343608
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1240337750
gnomAD v4: 2-27085105-G-C
MyVariant Identifiers: chr2:g.27307973G>C (hg19) chr2:g.27085105G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085105G>C , CM000664.2:g.27085105G>C GRCh38
NC_000002.11:g.27307973G>C , CM000664.1:g.27307973G>C GRCh37
NC_000002.10:g.27161477G>C NCBI36
NG_012199.1:g.3363G>C
NG_046849.1:g.11539G>C
NG_012199.2:g.3363G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2576-55G>C MANE Select ENSP00000369677.4:n.2576-55G>C
ENST00000380320.8:c.2576-55G>C ENSP00000369677.4:n.2576-55G>C
ENST00000433140.1:c.568-55G>C
NM_007046.3:c.2576-55G>C NP_008977.1:n.2576-55G>C
XM_006711928.2:c.2575+97G>C XP_006711991.1:n.2575+97G>C
NM_007046.4:c.2576-55G>C MANE Select NP_008977.1:n.2576-55G>C
Search 100 bp 5'
Search 100 bp 3'