Canonical Allele Identifier: CA425382221
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs774676569
gnomAD v2: 2-27308110-G-T
gnomAD v4: 2-27085242-G-T
MyVariant Identifiers: chr2:g.27308110G>T (hg19) chr2:g.27085242G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085242G>T , CM000664.2:g.27085242G>T GRCh38
NC_000002.11:g.27308110G>T , CM000664.1:g.27308110G>T GRCh37
NC_000002.10:g.27161614G>T NCBI36
NG_012199.1:g.3500G>T
NG_046849.1:g.11676G>T
NG_012199.2:g.3500G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2658G>T MANE Select ENSP00000369677.4:p.Thr886=
ENST00000380320.8:c.2658G>T ENSP00000369677.4:p.Thr886=
ENST00000433140.1:c.650G>T
NM_007046.3:c.2658G>T NP_008977.1:p.Thr886=
XM_006711928.2:c.2575+234G>T XP_006711991.1:n.2575+234G>T
NM_007046.4:c.2658G>T MANE Select NP_008977.1:p.Thr886=
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Search 100 bp 3'