Canonical Allele Identifier: CA718603614

Gene: HBA2

Linked Data

• dbSNP Id: rs1484457500
• gnomAD v3: 16-173457-C-T
• gnomAD v4: 16-173457-C-T
• MyVariant Identifiers: chr16:g.223456C>T (hg19) ; chr16:g.173457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173457C>T , CM000678.2:g.173457C>T	GRCh38
NC_000016.9:g.223456C>T , CM000678.1:g.223456C>T	GRCh37
NC_000016.8:g.163456C>T	NCBI36
NG_000006.1:g.34320C>T
NG_059186.1:g.1807C>T
NG_059271.1:g.5611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.301-15C>T MANE Select	ENSP00000251595.6:n.301-15C>T
ENST00000251595.10:c.301-15C>T	ENSP00000251595.6:n.301-15C>T
ENST00000397806.1:c.205-15C>T	ENSP00000380908.1:n.205-15C>T
ENST00000482565.1:n.437-15C>T
ENST00000484216.1:n.397C>T
NM_000517.4:c.301-15C>T	NP_000508.1:n.301-15C>T
NM_000517.6:c.301-15C>T MANE Select	NP_000508.1:n.301-15C>T