Canonical Allele Identifier: CA620304243
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439127
ClinVar RCV Id: RCV000506103
dbSNP Id: rs1455019991
gnomAD v2: 16-223042-C-T
gnomAD v4: 16-173043-C-T
MyVariant Identifiers: chr16:g.223042C>T (hg19) chr16:g.173043C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173043C>T , CM000678.2:g.173043C>T GRCh38
NC_000016.9:g.223042C>T , CM000678.1:g.223042C>T GRCh37
NC_000016.8:g.163042C>T NCBI36
NG_000006.1:g.33906C>T
NG_059186.1:g.1393C>T
NG_059271.1:g.5197C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.95+36C>T MANE Select ENSP00000251595.6:n.95+36C>T
ENST00000251595.10:c.95+36C>T ENSP00000251595.6:n.95+36C>T
ENST00000397806.1:c.-1-82C>T ENSP00000380908.1:n.-1-82C>T
ENST00000482565.1:n.150C>T
ENST00000484216.1:n.64+36C>T
NM_000517.4:c.95+36C>T NP_000508.1:n.95+36C>T
NM_000517.6:c.95+36C>T MANE Select NP_000508.1:n.95+36C>T
Search 100 bp 5'
Search 100 bp 3'