Canonical Allele Identifier: CA425382296

Gene: EMILIN1

Linked Data

• MyVariant Identifiers: chr2:g.27308161G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085293G>A , CM000664.2:g.27085293G>A	GRCh38
NC_000002.11:g.27308161G>A , CM000664.1:g.27308161G>A	GRCh37
NC_000002.10:g.27161665G>A	NCBI36
NG_012199.1:g.3551G>A
NG_046849.1:g.11727G>A
NG_012199.2:g.3551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2709G>A MANE Select	ENSP00000369677.4:p.Glu903=
ENST00000380320.8:c.2709G>A	ENSP00000369677.4:p.Glu903=
ENST00000433140.1:c.701G>A
NM_007046.3:c.2709G>A	NP_008977.1:p.Glu903=
XM_006711928.2:c.2575+285G>A	XP_006711991.1:n.2575+285G>A
NM_007046.4:c.2709G>A MANE Select	NP_008977.1:p.Glu903=