Allele Registry

Canonical Allele Identifier: CA124623

Gene: HBG2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr11:g.5250055A>G

GRCh37 chr11:g.5271285A>G

Linked Data - Sequence & Population

gnomAD v3:

11:5250055 A / G

gnomAD v4:

chr11-5250055-A-G

Joint Max Group AF 0.00002983 (NFE)

Genomes Max Group AF 0.00002983 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000016175

RCV001814966

ClinVar Variation:

15031

dbSNP:

35710727

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5250055A>G , CM000673.2:g.5250055A>G	GRCh38
NC_000011.9:g.5271285A>G , CM000673.1:g.5271285A>G	GRCh37
NC_000011.8:g.5227861A>G	NCBI36
NG_000007.3:g.47561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1568T>C	ENSP00000495346.1:n.316-1568T>C
ENST00000647543.1:c.379-1568T>C	ENSP00000496470.1:n.379-1568T>C
ENST00000620888.4:c.316-1568T>C	ENSP00000479637.1:n.316-1568T>C

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