Canonical Allele Identifier: CA149037534
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs1045419873
gnomAD v2: 6-145764214-A-G
gnomAD v3: 6-145443078-A-G
gnomAD v4: 6-145443078-A-G
MyVariant Identifiers: chr6:g.145764214A>G (hg19) chr6:g.145443078A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443078A>G , CM000668.2:g.145443078A>G GRCh38
NC_000006.11:g.145764214A>G , CM000668.1:g.145764214A>G GRCh37
NC_000006.10:g.145805907A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000638717.1:c.556-58981T>C
XM_024446550.1:c.773-58981T>C XP_024302318.1:n.773-58981T>C
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