Canonical Allele Identifier: CA1007547239
Gene: H2BC21 HGNC NCBI

Linked Data

dbSNP Id: rs2092285572
gnomAD v3: 1-149884548-C-G
gnomAD v4: 1-149884548-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149884548C>G , CM000663.2:g.149884548C>G GRCh38
NC_000001.10:g.149856098C>G , CM000663.1:g.149856098C>G GRCh37
NC_000001.9:g.148122722C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369155.4:c.*1712G>C MANE Select ENSP00000358151.2:n.*1712G>C
ENST00000369155.3:c.*1712G>C ENSP00000358151.2:n.*1712G>C
ENST00000369160.3:c.377+1716G>C ENSP00000375736.2:n.377+1716G>C
NM_003528.2:c.*1712G>C NP_003519.1:n.*1712G>C
NM_003528.3:c.*1712G>C MANE Select NP_003519.1:n.*1712G>C
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