Canonical Allele Identifier: CA2167440

Gene: ECEL1

Linked Data

• ClinVar Variation Id: 744403
• ClinVar RCV Id: RCV000920851 ; RCV003923279
• dbSNP Id: rs141823461
• ExAC: 2:233349583 G / T
• gnomAD v2: 2-233349583-G-T
• gnomAD v3: 2-232484873-G-T
• gnomAD v4: 2-232484873-G-T
• MyVariant Identifiers: chr2:g.233349583G>T (hg19) ; chr2:g.232484873G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232484873G>T , CM000664.2:g.232484873G>T	GRCh38
NC_000002.11:g.233349583G>T , CM000664.1:g.233349583G>T	GRCh37
NC_000002.10:g.233057827G>T	NCBI36
NG_034065.1:g.7987C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304546.6:c.987C>A MANE Select	ENSP00000302051.1:p.Asp329Glu
ENST00000304546.5:c.987C>A	ENSP00000302051.1:p.Asp329Glu
ENST00000409941.1:c.987C>A	ENSP00000386333.1:p.Asp329Glu
ENST00000482346.1:n.1298C>A
NM_001290787.1:c.987C>A	NP_001277716.1:p.Asp329Glu
NM_004826.3:c.987C>A	NP_004817.2:p.Asp329Glu
NM_004826.4:c.987C>A MANE Select	NP_004817.2:p.Asp329Glu
NM_001290787.2:c.987C>A	NP_001277716.1:p.Asp329Glu