Canonical Allele Identifier: CA893042831
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1482579766
MyVariant Identifiers: chr2:g.75792011T>A (hg19) chr2:g.75564885T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75564885T>A , CM000664.2:g.75564885T>A GRCh38
NC_000002.11:g.75792011T>A , CM000664.1:g.75792011T>A GRCh37
NC_000002.10:g.75645519T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4591A>T ENSP00000233712.1:n.-192+4591A>T
ENST00000486696.1:n.223+4591A>T
NM_032181.2:c.-192+4591A>T NP_115557.1:n.-192+4591A>T
NM_032181.3:c.-192+4591A>T NP_115557.1:n.-192+4591A>T
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