Canonical Allele Identifier: CA2167421
Gene: ECEL1 HGNC NCBI

Linked Data

dbSNP Id: rs774417223
ExAC: 2:233349508 C / A
gnomAD v2: 2-233349508-C-A
gnomAD v4: 2-232484798-C-A
MyVariant Identifiers: chr2:g.233349508C>A (hg19) chr2:g.232484798C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232484798C>A , CM000664.2:g.232484798C>A GRCh38
NC_000002.11:g.233349508C>A , CM000664.1:g.233349508C>A GRCh37
NC_000002.10:g.233057752C>A NCBI36
NG_034065.1:g.8062G>T

Transcript Alleles

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