Canonical Allele Identifier: CA934697696

Gene: HBG2

Linked Data

• gnomAD v3: 11-5254614-TTGTCC-T
• gnomAD v4: 11-5254614-TTGTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254617_5254621del , CM000673.2:g.5254617_5254621del	GRCh38
NC_000011.9:g.5275847_5275851del , CM000673.1:g.5275847_5275851del	GRCh37
NC_000011.8:g.5232423_5232427del	NCBI36
NG_000007.3:g.42997_43001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.92+18_92+22del MANE Select	ENSP00000338082.4:n.92+18_92+22del
ENST00000380252.6:c.-73-105_-73-101del	ENSP00000369602.2:n.-73-105_-73-101del
ENST00000380259.7:c.1638+18_1638+22del	ENSP00000369609.3:n.1638+18_1638+22del
ENST00000642908.1:c.92+18_92+22del	ENSP00000495346.1:n.92+18_92+22del
ENST00000647543.1:c.92+18_92+22del	ENSP00000496470.1:n.92+18_92+22del
ENST00000336906.4:c.92+18_92+22del	ENSP00000338082.4:n.92+18_92+22del
ENST00000380252.5:c.63-105_63-101del	ENSP00000369602.1:n.63-105_63-101del
ENST00000380259.6:c.92+18_92+22del	ENSP00000369609.2:n.92+18_92+22del
ENST00000444587.1:c.54+56_54+60del	ENSP00000488218.1:n.54+56_54+60del
ENST00000620888.4:c.92+18_92+22del	ENSP00000479637.1:n.92+18_92+22del
ENST00000624109.1:c.265-19_265-15del	ENSP00000485458.1:n.265-19_265-15del
NM_000184.2:c.92+18_92+22del	NP_000175.1:n.92+18_92+22del
NM_000184.3:c.92+18_92+22del MANE Select	NP_000175.1:n.92+18_92+22del