Canonical Allele Identifier: CA677772207

Gene: HBG2

Linked Data

• dbSNP Id: rs1406103539
• gnomAD v3: 11-5254625-AC-A
• gnomAD v4: 11-5254625-AC-A
• MyVariant Identifiers: chr11:g.5275856del (hg19) ; chr11:g.5254626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254627del , CM000673.2:g.5254627del	GRCh38
NC_000011.9:g.5275857del , CM000673.1:g.5275857del	GRCh37
NC_000011.8:g.5232433del	NCBI36
NG_000007.3:g.42990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.92+11del MANE Select	ENSP00000338082.4:n.92+11del
ENST00000380252.6:c.-73-112del	ENSP00000369602.2:n.-73-112del
ENST00000380259.7:c.1638+11del	ENSP00000369609.3:n.1638+11del
ENST00000642908.1:c.92+11del	ENSP00000495346.1:n.92+11del
ENST00000647543.1:c.92+11del	ENSP00000496470.1:n.92+11del
ENST00000336906.4:c.92+11del	ENSP00000338082.4:n.92+11del
ENST00000380252.5:c.63-112del	ENSP00000369602.1:n.63-112del
ENST00000380259.6:c.92+11del	ENSP00000369609.2:n.92+11del
ENST00000444587.1:c.54+49del	ENSP00000488218.1:n.54+49del
ENST00000620888.4:c.92+11del	ENSP00000479637.1:n.92+11del
ENST00000624109.1:c.265-9del	ENSP00000485458.1:n.265-9del
NM_000184.2:c.92+11del	NP_000175.1:n.92+11del
NM_000184.3:c.92+11del MANE Select	NP_000175.1:n.92+11del