Canonical Allele Identifier: CA10629002
Gene: BMPER HGNC NCBI

Linked Data

ClinVar Variation Id: 360140
ClinVar RCV Id: RCV000298417
dbSNP Id: rs567401735
gnomAD v2: 7-34194281-A-G
gnomAD v3: 7-34154669-A-G
gnomAD v4: 7-34154669-A-G
MyVariant Identifiers: chr7:g.34194281A>G (hg19) chr7:g.34154669A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.34154669A>G , CM000669.2:g.34154669A>G GRCh38
NC_000007.13:g.34194281A>G , CM000669.1:g.34194281A>G GRCh37
NC_000007.12:g.34160806A>G NCBI36
NG_031933.1:g.254759A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648982.1:c.3047A>G
ENST00000649409.2:c.*1396A>G MANE Select ENSP00000497748.1:n.*1396A>G
ENST00000650206.1:c.*2585A>G ENSP00000497637.1:n.*2585A>G
ENST00000650350.1:c.3197A>G ENSP00000497933.1:n.3197A>G
ENST00000297161.6:c.*1396A>G ENSP00000297161.2:n.*1396A>G
NM_133468.4:c.*1396A>G NP_597725.1:n.*1396A>G
NM_001365308.1:c.*1396A>G MANE Select NP_001352237.1:n.*1396A>G
NM_133468.5:c.*1396A>G NP_597725.1:n.*1396A>G
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