Canonical Allele Identifier: CA425382216

Gene: EMILIN1

Linked Data

• dbSNP Id: rs1669583137
• gnomAD v3: 2-27085236-A-T
• gnomAD v4: 2-27085236-A-T
• MyVariant Identifiers: chr2:g.27308104A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085236A>T , CM000664.2:g.27085236A>T	GRCh38
NC_000002.11:g.27308104A>T , CM000664.1:g.27308104A>T	GRCh37
NC_000002.10:g.27161608A>T	NCBI36
NG_012199.1:g.3494A>T
NG_046849.1:g.11670A>T
NG_012199.2:g.3494A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2652A>T MANE Select	ENSP00000369677.4:p.Pro884=
ENST00000380320.8:c.2652A>T	ENSP00000369677.4:p.Pro884=
ENST00000433140.1:c.644A>T
NM_007046.3:c.2652A>T	NP_008977.1:p.Pro884=
XM_006711928.2:c.2575+228A>T	XP_006711991.1:n.2575+228A>T
NM_007046.4:c.2652A>T MANE Select	NP_008977.1:p.Pro884=