Canonical Allele Identifier: CA2167441
Gene: ECEL1 HGNC NCBI

Linked Data

dbSNP Id: rs141823461
ExAC: 2:233349583 G / A
gnomAD v2: 2-233349583-G-A
gnomAD v3: 2-232484873-G-A
gnomAD v4: 2-232484873-G-A
MyVariant Identifiers: chr2:g.233349583G>A (hg19) chr2:g.232484873G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000304546.6:c.987C>T MANE Select ENSP00000302051.1:p.Asp329=
ENST00000304546.5:c.987C>T ENSP00000302051.1:p.Asp329=
ENST00000409941.1:c.987C>T ENSP00000386333.1:p.Asp329=
ENST00000482346.1:n.1298C>T
NM_001290787.1:c.987C>T NP_001277716.1:p.Asp329=
NM_004826.3:c.987C>T NP_004817.2:p.Asp329=
NM_004826.4:c.987C>T MANE Select NP_004817.2:p.Asp329=
NM_001290787.2:c.987C>T NP_001277716.1:p.Asp329=
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