Canonical Allele Identifier: CA351001019
Gene: ECEL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233349192T>A (hg19) chr2:g.232484482T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484482T>A , CM000664.2:g.232484482T>A GRCh38
NC_000002.11:g.233349192T>A , CM000664.1:g.233349192T>A GRCh37
NC_000002.10:g.233057436T>A NCBI36
NG_034065.1:g.8378A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304546.6:c.1174A>T MANE Select ENSP00000302051.1:p.Thr392Ser
ENST00000304546.5:c.1174A>T ENSP00000302051.1:p.Thr392Ser
ENST00000409941.1:c.1174A>T ENSP00000386333.1:p.Thr392Ser
ENST00000482346.1:n.1485A>T
NM_001290787.1:c.1174A>T NP_001277716.1:p.Thr392Ser
NM_004826.3:c.1174A>T NP_004817.2:p.Thr392Ser
NM_004826.4:c.1174A>T MANE Select NP_004817.2:p.Thr392Ser
NM_001290787.2:c.1174A>T NP_001277716.1:p.Thr392Ser
Search 100 bp 5'
Search 100 bp 3'