Canonical Allele Identifier: CA973581875

Gene: HBA2

Linked Data

• dbSNP Id: rs1567163280
• gnomAD v3: 16-173030-G-C
• gnomAD v4: 16-173030-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173030G>C , CM000678.2:g.173030G>C	GRCh38
NC_000016.9:g.223029G>C , CM000678.1:g.223029G>C	GRCh37
NC_000016.8:g.163029G>C	NCBI36
NG_000006.1:g.33893G>C
NG_059186.1:g.1380G>C
NG_059271.1:g.5184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.95+23G>C MANE Select	ENSP00000251595.6:n.95+23G>C
ENST00000251595.10:c.95+23G>C	ENSP00000251595.6:n.95+23G>C
ENST00000397806.1:c.-2+72G>C	ENSP00000380908.1:n.-2+72G>C
ENST00000482565.1:n.137G>C
ENST00000484216.1:n.64+23G>C
NM_000517.4:c.95+23G>C	NP_000508.1:n.95+23G>C
NM_000517.6:c.95+23G>C MANE Select	NP_000508.1:n.95+23G>C