Canonical Allele Identifier: CA597436269

Gene: HBG2

Linked Data

• dbSNP Id: rs1192737992
• gnomAD v2: 11-5275832-TC-T
• gnomAD v3: 11-5254602-TC-T
• gnomAD v4: 11-5254602-TC-T
• MyVariant Identifiers: chr11:g.5275833del (hg19) ; chr11:g.5254603del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254604del , CM000673.2:g.5254604del	GRCh38
NC_000011.9:g.5275834del , CM000673.1:g.5275834del	GRCh37
NC_000011.8:g.5232410del	NCBI36
NG_000007.3:g.43013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.92+34del MANE Select	ENSP00000338082.4:n.92+34del
ENST00000380252.6:c.-73-89del	ENSP00000369602.2:n.-73-89del
ENST00000380259.7:c.1638+34del	ENSP00000369609.3:n.1638+34del
ENST00000642908.1:c.92+34del	ENSP00000495346.1:n.92+34del
ENST00000647543.1:c.92+34del	ENSP00000496470.1:n.92+34del
ENST00000336906.4:c.92+34del	ENSP00000338082.4:n.92+34del
ENST00000380252.5:c.63-89del	ENSP00000369602.1:n.63-89del
ENST00000380259.6:c.92+34del	ENSP00000369609.2:n.92+34del
ENST00000444587.1:c.54+72del	ENSP00000488218.1:n.54+72del
ENST00000620888.4:c.92+34del	ENSP00000479637.1:n.92+34del
ENST00000624109.1:c.265-32del	ENSP00000485458.1:n.265-32del
NM_000184.2:c.92+34del	NP_000175.1:n.92+34del
NM_000184.3:c.92+34del MANE Select	NP_000175.1:n.92+34del