Canonical Allele Identifier: CA893043003
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1436704846
gnomAD v3: 2-75565133-G-C
gnomAD v4: 2-75565133-G-C
MyVariant Identifiers: chr2:g.75792259G>C (hg19) chr2:g.75565133G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565133G>C , CM000664.2:g.75565133G>C GRCh38
NC_000002.11:g.75792259G>C , CM000664.1:g.75792259G>C GRCh37
NC_000002.10:g.75645767G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000233712.5:c.-192+4343C>G ENSP00000233712.1:n.-192+4343C>G
ENST00000486696.1:n.223+4343C>G
NM_032181.2:c.-192+4343C>G NP_115557.1:n.-192+4343C>G
NM_032181.3:c.-192+4343C>G NP_115557.1:n.-192+4343C>G
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