Canonical Allele Identifier: CA425382236

Gene: EMILIN1

Linked Data

• MyVariant Identifiers: chr2:g.27308125A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085257A>G , CM000664.2:g.27085257A>G	GRCh38
NC_000002.11:g.27308125A>G , CM000664.1:g.27308125A>G	GRCh37
NC_000002.10:g.27161629A>G	NCBI36
NG_012199.1:g.3515A>G
NG_046849.1:g.11691A>G
NG_012199.2:g.3515A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2673A>G MANE Select	ENSP00000369677.4:p.Arg891=
ENST00000380320.8:c.2673A>G	ENSP00000369677.4:p.Arg891=
ENST00000433140.1:c.665A>G
NM_007046.3:c.2673A>G	NP_008977.1:p.Arg891=
XM_006711928.2:c.2575+249A>G	XP_006711991.1:n.2575+249A>G
NM_007046.4:c.2673A>G MANE Select	NP_008977.1:p.Arg891=