Canonical Allele Identifier: CA1568984
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs759712688
ExAC: 2:27308040 C / T
gnomAD v2: 2-27308040-C-T
gnomAD v3: 2-27085172-C-T
gnomAD v4: 2-27085172-C-T
MyVariant Identifiers: chr2:g.27308040C>T (hg19) chr2:g.27085172C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085172C>T , CM000664.2:g.27085172C>T GRCh38
NC_000002.11:g.27308040C>T , CM000664.1:g.27308040C>T GRCh37
NC_000002.10:g.27161544C>T NCBI36
NG_012199.1:g.3430C>T
NG_046849.1:g.11606C>T
NG_012199.2:g.3430C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2588C>T MANE Select ENSP00000369677.4:p.Ala863Val
ENST00000380320.8:c.2588C>T ENSP00000369677.4:p.Ala863Val
ENST00000433140.1:c.580C>T
NM_007046.3:c.2588C>T NP_008977.1:p.Ala863Val
XM_006711928.2:c.2575+164C>T XP_006711991.1:n.2575+164C>T
NM_007046.4:c.2588C>T MANE Select NP_008977.1:p.Ala863Val
Search 100 bp 5'
Search 100 bp 3'