Canonical Allele Identifier: CA50607909
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs531176506
gnomAD v2: 2-75792338-G-A
gnomAD v3: 2-75565212-G-A
gnomAD v4: 2-75565212-G-A
MyVariant Identifiers: chr2:g.75792338G>A (hg19) chr2:g.75565212G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565212G>A , CM000664.2:g.75565212G>A GRCh38
NC_000002.11:g.75792338G>A , CM000664.1:g.75792338G>A GRCh37
NC_000002.10:g.75645846G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4264C>T ENSP00000233712.1:n.-192+4264C>T
ENST00000486696.1:n.223+4264C>T
NM_032181.2:c.-192+4264C>T NP_115557.1:n.-192+4264C>T
NM_032181.3:c.-192+4264C>T NP_115557.1:n.-192+4264C>T
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