Canonical Allele Identifier: CA217119051

Gene: HBG2

Linked Data

• dbSNP Id: rs1554921784
• MyVariant Identifiers: chr11:g.5271309_5271310insTGCT (hg19) ; chr11:g.5250079_5250080insTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5250076_5250079dup , CM000673.2:g.5250076_5250079dup	GRCh38
NC_000011.9:g.5271306_5271309dup , CM000673.1:g.5271306_5271309dup	GRCh37
NC_000011.8:g.5227882_5227885dup	NCBI36
NG_000007.3:g.47537_47540dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1592_316-1589dup	ENSP00000495346.1:n.316-1592_316-1589dup
ENST00000647543.1:c.379-1592_379-1589dup	ENSP00000496470.1:n.379-1592_379-1589dup
ENST00000620888.4:c.316-1592_316-1589dup	ENSP00000479637.1:n.316-1592_316-1589dup