Canonical Allele Identifier: CA531422414

Gene: EMILIN1

Linked Data

• dbSNP Id: rs1264417492
• gnomAD v2: 2-27307899-T-C
• gnomAD v3: 2-27085031-T-C
• gnomAD v4: 2-27085031-T-C
• MyVariant Identifiers: chr2:g.27307899T>C (hg19) ; chr2:g.27085031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085031T>C , CM000664.2:g.27085031T>C	GRCh38
NC_000002.11:g.27307899T>C , CM000664.1:g.27307899T>C	GRCh37
NC_000002.10:g.27161403T>C	NCBI36
NG_012199.1:g.3289T>C
NG_046849.1:g.11465T>C
NG_012199.2:g.3289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2575+23T>C MANE Select	ENSP00000369677.4:n.2575+23T>C
ENST00000380320.8:c.2575+23T>C	ENSP00000369677.4:n.2575+23T>C
ENST00000433140.1:c.567+23T>C
NM_007046.3:c.2575+23T>C	NP_008977.1:n.2575+23T>C
XM_006711928.2:c.2575+23T>C	XP_006711991.1:n.2575+23T>C
NM_007046.4:c.2575+23T>C MANE Select	NP_008977.1:n.2575+23T>C