Canonical Allele Identifier: CA893042840
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1404974678
MyVariant Identifiers: chr2:g.75792034C>T (hg19) chr2:g.75564908C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75564908C>T , CM000664.2:g.75564908C>T GRCh38
NC_000002.11:g.75792034C>T , CM000664.1:g.75792034C>T GRCh37
NC_000002.10:g.75645542C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4568G>A ENSP00000233712.1:n.-192+4568G>A
ENST00000486696.1:n.223+4568G>A
NM_032181.2:c.-192+4568G>A NP_115557.1:n.-192+4568G>A
NM_032181.3:c.-192+4568G>A NP_115557.1:n.-192+4568G>A
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