Canonical Allele Identifier: CA677767913

Gene: HBG2

Linked Data

• dbSNP Id: rs41482348
• gnomAD v3: 11-5250074-A-ACTG
• gnomAD v4: 11-5250074-A-ACTG
• MyVariant Identifiers: chr11:g.5271304_5271305insCTG (hg19) ; chr11:g.5250074_5250075insCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5250077_5250079dup , CM000673.2:g.5250077_5250079dup	GRCh38
NC_000011.9:g.5271307_5271309dup , CM000673.1:g.5271307_5271309dup	GRCh37
NC_000011.8:g.5227883_5227885dup	NCBI36
NG_000007.3:g.47539_47541dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1590_316-1588dup	ENSP00000495346.1:n.316-1590_316-1588dup
ENST00000647543.1:c.379-1590_379-1588dup	ENSP00000496470.1:n.379-1590_379-1588dup
ENST00000620888.4:c.316-1590_316-1588dup	ENSP00000479637.1:n.316-1590_316-1588dup