Canonical Allele Identifier: CA7770151

Gene: HBA2

Linked Data

• dbSNP Id: rs374396930
• ExAC: 16:223435 C / G
• gnomAD v2: 16-223435-C-G
• gnomAD v3: 16-173436-C-G
• gnomAD v4: 16-173436-C-G
• MyVariant Identifiers: chr16:g.223435C>G (hg19) ; chr16:g.173436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173436C>G , CM000678.2:g.173436C>G	GRCh38
NC_000016.9:g.223435C>G , CM000678.1:g.223435C>G	GRCh37
NC_000016.8:g.163435C>G	NCBI36
NG_000006.1:g.34299C>G
NG_059186.1:g.1786C>G
NG_059271.1:g.5590C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.301-36C>G MANE Select	ENSP00000251595.6:n.301-36C>G
ENST00000251595.10:c.301-36C>G	ENSP00000251595.6:n.301-36C>G
ENST00000397806.1:c.205-36C>G	ENSP00000380908.1:n.205-36C>G
ENST00000482565.1:n.437-36C>G
ENST00000484216.1:n.376C>G
NM_000517.4:c.301-36C>G	NP_000508.1:n.301-36C>G
NM_000517.6:c.301-36C>G MANE Select	NP_000508.1:n.301-36C>G