Canonical Allele Identifier: CA124628

Gene: HBG2

Linked Data

• ClinVar Variation Id: 15035
• ClinVar RCV Id: RCV001814969
• dbSNP Id: rs281860601
• gnomAD v3: 11-5249971-G-A
• gnomAD v4: 11-5249971-G-A
• MyVariant Identifiers: chr11:g.5271201G>A (hg19) ; chr11:g.5249971G>A (hg38)
• PubMed: PMID:1698280 ; PMID:1704803

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249971G>A , CM000673.2:g.5249971G>A	GRCh38
NC_000011.9:g.5271201G>A , CM000673.1:g.5271201G>A	GRCh37
NC_000011.8:g.5227777G>A	NCBI36
NG_000007.3:g.47645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1484C>T	ENSP00000495346.1:n.316-1484C>T
ENST00000647543.1:c.379-1484C>T	ENSP00000496470.1:n.379-1484C>T
ENST00000620888.4:c.316-1484C>T	ENSP00000479637.1:n.316-1484C>T