Canonical Allele Identifier: CA7770157

Gene: HBA2

Linked Data

• dbSNP Id: rs375381278
• ExAC: 16:223445 C / CCCT
• gnomAD v2: 16-223445-C-CCCT
• gnomAD v3: 16-173446-C-CCCT
• gnomAD v4: 16-173446-C-CCCT
• MyVariant Identifiers: chr16:g.223445_223446insCCT (hg19) ; chr16:g.173446_173447insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173447_173448insCTC , CM000678.2:g.173447_173448insCTC	GRCh38
NC_000016.9:g.223446_223447insCTC , CM000678.1:g.223446_223447insCTC	GRCh37
NC_000016.8:g.163446_163447insCTC	NCBI36
NG_000006.1:g.34310_34311insCTC
NG_059186.1:g.1797_1798insCTC
NG_059271.1:g.5601_5602insCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.301-25_301-24insCTC MANE Select	ENSP00000251595.6:n.301-25_301-24insCTC
ENST00000251595.10:c.301-25_301-24insCTC	ENSP00000251595.6:n.301-25_301-24insCTC
ENST00000397806.1:c.205-25_205-24insCTC	ENSP00000380908.1:n.205-25_205-24insCTC
ENST00000482565.1:n.437-25_437-24insCTC
ENST00000484216.1:n.387_388insCTC
NM_000517.4:c.301-25_301-24insCTC	NP_000508.1:n.301-25_301-24insCTC
NM_000517.6:c.301-25_301-24insCTC MANE Select	NP_000508.1:n.301-25_301-24insCTC