Canonical Allele Identifier: CA934697685

Gene: HBG2

Linked Data

• dbSNP Id: rs2133613651
• gnomAD v3: 11-5254580-C-CTT
• gnomAD v4: 11-5254580-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254583_5254584dup , CM000673.2:g.5254583_5254584dup	GRCh38
NC_000011.9:g.5275813_5275814dup , CM000673.1:g.5275813_5275814dup	GRCh37
NC_000011.8:g.5232389_5232390dup	NCBI36
NG_000007.3:g.43034_43035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.92+55_92+56dup MANE Select	ENSP00000338082.4:n.92+55_92+56dup
ENST00000380252.6:c.-73-68_-73-67dup	ENSP00000369602.2:n.-73-68_-73-67dup
ENST00000380259.7:c.1638+55_1638+56dup	ENSP00000369609.3:n.1638+55_1638+56dup
ENST00000642908.1:c.92+55_92+56dup	ENSP00000495346.1:n.92+55_92+56dup
ENST00000647543.1:c.92+55_92+56dup	ENSP00000496470.1:n.92+55_92+56dup
ENST00000336906.4:c.92+55_92+56dup	ENSP00000338082.4:n.92+55_92+56dup
ENST00000380252.5:c.63-68_63-67dup	ENSP00000369602.1:n.63-68_63-67dup
ENST00000380259.6:c.92+55_92+56dup	ENSP00000369609.2:n.92+55_92+56dup
ENST00000444587.1:c.55-68_55-67dup	ENSP00000488218.1:n.55-68_55-67dup
ENST00000620888.4:c.92+55_92+56dup	ENSP00000479637.1:n.92+55_92+56dup
ENST00000624109.1:c.265-53_265-52dup	ENSP00000485458.1:n.265-53_265-52dup
NM_000184.2:c.92+55_92+56dup	NP_000175.1:n.92+55_92+56dup
NM_000184.3:c.92+55_92+56dup MANE Select	NP_000175.1:n.92+55_92+56dup