Canonical Allele Identifier: CA7770159

Gene: HBA2

Linked Data

• dbSNP Id: rs568095645
• ExAC: 16:223447 G / C
• gnomAD v2: 16-223447-G-C
• gnomAD v3: 16-173448-G-C
• gnomAD v4: 16-173448-G-C
• MyVariant Identifiers: chr16:g.223447G>C (hg19) ; chr16:g.173448G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173448G>C , CM000678.2:g.173448G>C	GRCh38
NC_000016.9:g.223447G>C , CM000678.1:g.223447G>C	GRCh37
NC_000016.8:g.163447G>C	NCBI36
NG_000006.1:g.34311G>C
NG_059186.1:g.1798G>C
NG_059271.1:g.5602G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.301-24G>C MANE Select	ENSP00000251595.6:n.301-24G>C
ENST00000251595.10:c.301-24G>C	ENSP00000251595.6:n.301-24G>C
ENST00000397806.1:c.205-24G>C	ENSP00000380908.1:n.205-24G>C
ENST00000482565.1:n.437-24G>C
ENST00000484216.1:n.388G>C
NM_000517.4:c.301-24G>C	NP_000508.1:n.301-24G>C
NM_000517.6:c.301-24G>C MANE Select	NP_000508.1:n.301-24G>C