Canonical Allele Identifier: CA597205413

Gene: HBG2

Linked Data

• dbSNP Id: rs1216705660
• gnomAD v2: 11-5271311-AT-A
• gnomAD v3: 11-5250081-AT-A
• gnomAD v4: 11-5250081-AT-A
• MyVariant Identifiers: chr11:g.5271312del (hg19) ; chr11:g.5250082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5250089del , CM000673.2:g.5250089del	GRCh38
NC_000011.9:g.5271319del , CM000673.1:g.5271319del	GRCh37
NC_000011.8:g.5227895del	NCBI36
NG_000007.3:g.47534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1595del	ENSP00000495346.1:n.316-1595del
ENST00000647543.1:c.379-1595del	ENSP00000496470.1:n.379-1595del
ENST00000620888.4:c.316-1595del	ENSP00000479637.1:n.316-1595del