Canonical Allele Identifier: CA217119075

Gene: HBG2

Linked Data

• dbSNP Id: rs112899491
• gnomAD v2: 11-5271364-A-G
• gnomAD v3: 11-5250134-A-G
• gnomAD v4: 11-5250134-A-G
• MyVariant Identifiers: chr11:g.5271364A>G (hg19) ; chr11:g.5250134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5250134A>G , CM000673.2:g.5250134A>G	GRCh38
NC_000011.9:g.5271364A>G , CM000673.1:g.5271364A>G	GRCh37
NC_000011.8:g.5227940A>G	NCBI36
NG_000007.3:g.47482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1647T>C	ENSP00000495346.1:n.316-1647T>C
ENST00000647543.1:c.379-1647T>C	ENSP00000496470.1:n.379-1647T>C
ENST00000620888.4:c.316-1647T>C	ENSP00000479637.1:n.316-1647T>C