Canonical Allele Identifier: CA2166987

Gene: ECEL1

Linked Data

• dbSNP Id: rs606231471
• ExAC: 2:233345833 C / A
• gnomAD v2: 2-233345833-C-A
• gnomAD v4: 2-232481123-C-A
• MyVariant Identifiers: chr2:g.233345833C>A (hg19) ; chr2:g.232481123C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232481123C>A , CM000664.2:g.232481123C>A	GRCh38
NC_000002.11:g.233345833C>A , CM000664.1:g.233345833C>A	GRCh37
NC_000002.10:g.233054077C>A	NCBI36
NG_034065.1:g.11737G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304546.6:c.2023G>T MANE Select	ENSP00000302051.1:p.Ala675Ser
ENST00000304546.5:c.2023G>T	ENSP00000302051.1:p.Ala675Ser
ENST00000409941.1:c.2017G>T	ENSP00000386333.1:p.Ala673Ser
ENST00000411860.5:c.235-310G>T	ENSP00000412683.1:n.235-310G>T
ENST00000482346.1:n.2334G>T
NM_001290787.1:c.2017G>T	NP_001277716.1:p.Ala673Ser
NM_004826.3:c.2023G>T	NP_004817.2:p.Ala675Ser
NM_004826.4:c.2023G>T MANE Select	NP_004817.2:p.Ala675Ser
NM_001290787.2:c.2017G>T	NP_001277716.1:p.Ala673Ser