Canonical Allele Identifier: CA7770135

Gene: HBA2

Linked Data

• dbSNP Id: rs751742271
• ExAC: 16:223357 TCGAGGGG / T
• gnomAD v2: 16-223357-TCGAGGGG-T
• gnomAD v3: 16-173358-TCGAGGGG-T
• gnomAD v4: 16-173358-TCGAGGGG-T
• MyVariant Identifiers: chr16:g.223358_223364del (hg19) ; chr16:g.173359_173365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173363_173369del , CM000678.2:g.173363_173369del	GRCh38
NC_000016.9:g.223362_223368del , CM000678.1:g.223362_223368del	GRCh37
NC_000016.8:g.163362_163368del	NCBI36
NG_000006.1:g.34226_34232del
NG_059186.1:g.1713_1719del
NG_059271.1:g.5517_5523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.300+34_300+40del MANE Select	ENSP00000251595.6:n.300+34_300+40del
ENST00000251595.10:c.300+34_300+40del	ENSP00000251595.6:n.300+34_300+40del
ENST00000397806.1:c.204+34_204+40del	ENSP00000380908.1:n.204+34_204+40del
ENST00000482565.1:n.436+34_436+40del
ENST00000484216.1:n.303_309del
NM_000517.4:c.300+34_300+40del	NP_000508.1:n.300+34_300+40del
NM_000517.6:c.300+34_300+40del MANE Select	NP_000508.1:n.300+34_300+40del