Canonical Allele Identifier: CA7770122

Gene: HBA2

Linked Data

• dbSNP Id: rs763037308
• ExAC: 16:223328 G / GCTCCTAAGCCACTGCCT
• MyVariant Identifiers: chr16:g.223328_223329insCTCCTAAGCCACTGCCT (hg19) ; chr16:g.173329_173330insCTCCTAAGCCACTGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173329_173330insCTCCTAAGCCACTGCCT , CM000678.2:g.173329_173330insCTCCTAAGCCACTGCCT	GRCh38
NC_000016.9:g.223328_223329insCTCCTAAGCCACTGCCT , CM000678.1:g.223328_223329insCTCCTAAGCCACTGCCT	GRCh37
NC_000016.8:g.163328_163329insCTCCTAAGCCACTGCCT	NCBI36
NG_000006.1:g.34192_34193insCTCCTAAGCCACTGCCT
NG_059186.1:g.1679_1680insCTCCTAAGCCACTGCCT
NG_059271.1:g.5483_5484insCTCCTAAGCCACTGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.300_300+1insCTCCTAAGCCACTGCCT MANE Select	ENSP00000251595.6:n.300_300+1insCTCCTAAGCCACTGCCT
ENST00000251595.10:c.300_300+1insCTCCTAAGCCACTGCCT	ENSP00000251595.6:n.300_300+1insCTCCTAAGCCACTGCCT
ENST00000397806.1:c.204_204+1insCTCCTAAGCCACTGCCT	ENSP00000380908.1:n.204_204+1insCTCCTAAGCCACTGCCT
ENST00000482565.1:n.436_436+1insCTCCTAAGCCACTGCCT
ENST00000484216.1:n.269_270insCTCCTAAGCCACTGCCT
NM_000517.4:c.300_300+1insCTCCTAAGCCACTGCCT	NP_000508.1:n.300_300+1insCTCCTAAGCCACTGCCT
NM_000517.6:c.300_300+1insCTCCTAAGCCACTGCCT MANE Select	NP_000508.1:n.300_300+1insCTCCTAAGCCACTGCCT