Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1087073476

Gene: H2BC4 HGNC NCBI
H2BC3 HGNC NCBI

Linked Data

dbSNP Id: rs2051543

gnomAD v3: 6-26107103-A-C

gnomAD v4: 6-26107103-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26107103A>C , CM000668.2:g.26107103A>C	GRCh38
NC_000006.11:g.26107331A>C , CM000668.1:g.26107331A>C	GRCh37
NC_000006.10:g.26215310A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000707188.1:c.391-16069T>G (H2BC4)	ENSP00000516775.1:n.391-16069T>G
ENST00000629531.1:c.132+16670T>G (H2BC3)	ENSP00000486472.1:n.132+16670T>G

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