Canonical Allele Identifier: CA2630737842

Gene: HBA2

Linked Data

• gnomAD v4: 16-173448-G-GGCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173448_173449insGCGC , CM000678.2:g.173448_173449insGCGC	GRCh38
NC_000016.9:g.223447_223448insGCGC , CM000678.1:g.223447_223448insGCGC	GRCh37
NC_000016.8:g.163447_163448insGCGC	NCBI36
NG_000006.1:g.34311_34312insGCGC
NG_059186.1:g.1798_1799insGCGC
NG_059271.1:g.5602_5603insGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.301-24_301-23insGCGC MANE Select	ENSP00000251595.6:n.301-24_301-23insGCGC
ENST00000251595.10:c.301-24_301-23insGCGC	ENSP00000251595.6:n.301-24_301-23insGCGC
ENST00000397806.1:c.205-24_205-23insGCGC	ENSP00000380908.1:n.205-24_205-23insGCGC
ENST00000482565.1:n.437-24_437-23insGCGC
ENST00000484216.1:n.388_389insGCGC
NM_000517.4:c.301-24_301-23insGCGC	NP_000508.1:n.301-24_301-23insGCGC
NM_000517.6:c.301-24_301-23insGCGC MANE Select	NP_000508.1:n.301-24_301-23insGCGC