Canonical Allele Identifier: CA526023921
Gene: H2BC21 HGNC NCBI

Linked Data

dbSNP Id: rs1553759522
gnomAD v2: 1-149856753-A-G
gnomAD v3: 1-149885203-A-G
gnomAD v4: 1-149885203-A-G
MyVariant Identifiers: chr1:g.149856753A>G (hg19) chr1:g.149885203A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149885203A>G , CM000663.2:g.149885203A>G GRCh38
NC_000001.10:g.149856753A>G , CM000663.1:g.149856753A>G GRCh37
NC_000001.9:g.148123377A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369155.4:c.*1057T>C MANE Select ENSP00000358151.2:n.*1057T>C
ENST00000369155.3:c.*1057T>C ENSP00000358151.2:n.*1057T>C
ENST00000369160.3:c.377+1061T>C ENSP00000375736.2:n.377+1061T>C
NM_003528.2:c.*1057T>C NP_003519.1:n.*1057T>C
NM_003528.3:c.*1057T>C MANE Select NP_003519.1:n.*1057T>C
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