Canonical Allele Identifier: CA351001642
Gene: ECEL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233349581T>C (hg19) chr2:g.232484871T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484871T>C , CM000664.2:g.232484871T>C GRCh38
NC_000002.11:g.233349581T>C , CM000664.1:g.233349581T>C GRCh37
NC_000002.10:g.233057825T>C NCBI36
NG_034065.1:g.7989A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304546.6:c.989A>G MANE Select ENSP00000302051.1:p.Asp330Gly
ENST00000304546.5:c.989A>G ENSP00000302051.1:p.Asp330Gly
ENST00000409941.1:c.989A>G ENSP00000386333.1:p.Asp330Gly
ENST00000482346.1:n.1300A>G
NM_001290787.1:c.989A>G NP_001277716.1:p.Asp330Gly
NM_004826.3:c.989A>G NP_004817.2:p.Asp330Gly
NM_004826.4:c.989A>G MANE Select NP_004817.2:p.Asp330Gly
NM_001290787.2:c.989A>G NP_001277716.1:p.Asp330Gly
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