Canonical Allele Identifier: CA44468548
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs935556691
gnomAD v2: 2-27308102-C-T
gnomAD v3: 2-27085234-C-T
gnomAD v4: 2-27085234-C-T
MyVariant Identifiers: chr2:g.27308102C>T (hg19) chr2:g.27085234C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085234C>T , CM000664.2:g.27085234C>T GRCh38
NC_000002.11:g.27308102C>T , CM000664.1:g.27308102C>T GRCh37
NC_000002.10:g.27161606C>T NCBI36
NG_012199.1:g.3492C>T
NG_046849.1:g.11668C>T
NG_012199.2:g.3492C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2650C>T MANE Select ENSP00000369677.4:p.Pro884Ser
ENST00000380320.8:c.2650C>T ENSP00000369677.4:p.Pro884Ser
ENST00000433140.1:c.642C>T
NM_007046.3:c.2650C>T NP_008977.1:p.Pro884Ser
XM_006711928.2:c.2575+226C>T XP_006711991.1:n.2575+226C>T
NM_007046.4:c.2650C>T MANE Select NP_008977.1:p.Pro884Ser
Search 100 bp 5'
Search 100 bp 3'