Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA823453067

Gene: H2BC4 HGNC NCBI
H2BC3 HGNC NCBI

Linked Data

dbSNP Id: rs1189926985

gnomAD v3: 6-26107253-T-C

gnomAD v4: 6-26107253-T-C

MyVariant Identifiers: chr6:g.26107481T>C (hg19) chr6:g.26107253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26107253T>C , CM000668.2:g.26107253T>C	GRCh38
NC_000006.11:g.26107481T>C , CM000668.1:g.26107481T>C	GRCh37
NC_000006.10:g.26215460T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000707188.1:c.391-16219A>G (H2BC4)	ENSP00000516775.1:n.391-16219A>G
ENST00000629531.1:c.132+16520A>G (H2BC3)	ENSP00000486472.1:n.132+16520A>G

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