Canonical Allele Identifier: CA492994695
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173263-C-G
MyVariant Identifiers: chr16:g.223262C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173263C>G , CM000678.2:g.173263C>G GRCh38
NC_000016.9:g.223262C>G , CM000678.1:g.223262C>G GRCh37
NC_000016.8:g.163262C>G NCBI36
NG_000006.1:g.34126C>G
NG_059186.1:g.1613C>G
NG_059271.1:g.5417C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.234C>G MANE Select ENSP00000251595.6:p.Pro78=
ENST00000251595.10:c.234C>G ENSP00000251595.6:p.Pro78=
ENST00000397806.1:c.138C>G ENSP00000380908.1:p.Pro46=
ENST00000482565.1:n.370C>G
ENST00000484216.1:n.203C>G
NM_000517.4:c.234C>G NP_000508.1:p.Pro78=
NM_000517.6:c.234C>G MANE Select NP_000508.1:p.Pro78=