Canonical Allele Identifier: CA620304410

Gene: HBA2

Linked Data

• dbSNP Id: rs778902407
• gnomAD v2: 16-223430-G-C
• gnomAD v4: 16-173431-G-C
• MyVariant Identifiers: chr16:g.223430G>C (hg19) ; chr16:g.173431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173431G>C , CM000678.2:g.173431G>C	GRCh38
NC_000016.9:g.223430G>C , CM000678.1:g.223430G>C	GRCh37
NC_000016.8:g.163430G>C	NCBI36
NG_000006.1:g.34294G>C
NG_059186.1:g.1781G>C
NG_059271.1:g.5585G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.301-41G>C MANE Select	ENSP00000251595.6:n.301-41G>C
ENST00000251595.10:c.301-41G>C	ENSP00000251595.6:n.301-41G>C
ENST00000397806.1:c.205-41G>C	ENSP00000380908.1:n.205-41G>C
ENST00000482565.1:n.437-41G>C
ENST00000484216.1:n.371G>C
NM_000517.4:c.301-41G>C	NP_000508.1:n.301-41G>C
NM_000517.6:c.301-41G>C MANE Select	NP_000508.1:n.301-41G>C