Canonical Allele Identifier: CA50607875
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs905019831
MyVariant Identifiers: chr2:g.75791994G>A (hg19) chr2:g.75564868G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75564868G>A , CM000664.2:g.75564868G>A GRCh38
NC_000002.11:g.75791994G>A , CM000664.1:g.75791994G>A GRCh37
NC_000002.10:g.75645502G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4608C>T ENSP00000233712.1:n.-192+4608C>T
ENST00000486696.1:n.223+4608C>T
NM_032181.2:c.-192+4608C>T NP_115557.1:n.-192+4608C>T
NM_032181.3:c.-192+4608C>T NP_115557.1:n.-192+4608C>T
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