Canonical Allele Identifier: CA351000976
Gene: ECEL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233349180A>C (hg19) chr2:g.232484470A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484470A>C , CM000664.2:g.232484470A>C GRCh38
NC_000002.11:g.233349180A>C , CM000664.1:g.233349180A>C GRCh37
NC_000002.10:g.233057424A>C NCBI36
NG_034065.1:g.8390T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304546.6:c.1184+2T>G MANE Select ENSP00000302051.1:n.1184+2T>G
ENST00000304546.5:c.1184+2T>G ENSP00000302051.1:n.1184+2T>G
ENST00000409941.1:c.1184+2T>G ENSP00000386333.1:n.1184+2T>G
ENST00000482346.1:n.1495+2T>G
NM_001290787.1:c.1184+2T>G NP_001277716.1:n.1184+2T>G
NM_004826.3:c.1184+2T>G NP_004817.2:n.1184+2T>G
NM_004826.4:c.1184+2T>G MANE Select NP_004817.2:n.1184+2T>G
NM_001290787.2:c.1184+2T>G NP_001277716.1:n.1184+2T>G
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