Canonical Allele Identifier: CA10626034
Gene: BMPER HGNC NCBI

Linked Data

ClinVar Variation Id: 360086
ClinVar RCV Id: RCV000326780
dbSNP Id: rs117405942
gnomAD v2: 7-33944634-G-A
gnomAD v3: 7-33905022-G-A
gnomAD v4: 7-33905022-G-A
MyVariant Identifiers: chr7:g.33944634G>A (hg19) chr7:g.33905022G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33905022G>A , CM000669.2:g.33905022G>A GRCh38
NC_000007.13:g.33944634G>A , CM000669.1:g.33944634G>A GRCh37
NC_000007.12:g.33911159G>A NCBI36
NG_031933.1:g.5112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000436222.6:n.235+480G>A
ENST00000297161.6:c.-263G>A ENSP00000297161.2:n.-263G>A
ENST00000448280.5:c.-263G>A ENSP00000398835.1:n.-263G>A
NM_133468.4:c.-263G>A NP_597725.1:n.-263G>A
NM_133468.5:c.-263G>A NP_597725.1:n.-263G>A
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