Canonical Allele Identifier: CA540309469
Gene: ECEL1 HGNC NCBI

Linked Data

dbSNP Id: rs1260250489
gnomAD v2: 2-233349477-C-T
MyVariant Identifiers: chr2:g.233349477C>T (hg19) chr2:g.232484767C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484767C>T , CM000664.2:g.232484767C>T GRCh38
NC_000002.11:g.233349477C>T , CM000664.1:g.233349477C>T GRCh37
NC_000002.10:g.233057721C>T NCBI36
NG_034065.1:g.8093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304546.6:c.1059+34G>A MANE Select ENSP00000302051.1:n.1059+34G>A
ENST00000304546.5:c.1059+34G>A ENSP00000302051.1:n.1059+34G>A
ENST00000409941.1:c.1059+34G>A ENSP00000386333.1:n.1059+34G>A
ENST00000482346.1:n.1370+34G>A
NM_001290787.1:c.1059+34G>A NP_001277716.1:n.1059+34G>A
NM_004826.3:c.1059+34G>A NP_004817.2:n.1059+34G>A
NM_004826.4:c.1059+34G>A MANE Select NP_004817.2:n.1059+34G>A
NM_001290787.2:c.1059+34G>A NP_001277716.1:n.1059+34G>A
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