Canonical Allele Identifier: CA597207139

Gene: HBG2

Linked Data

• dbSNP Id: rs1487919606
• gnomAD v2: 11-5274350-C-T
• gnomAD v3: 11-5253120-C-T
• gnomAD v4: 11-5253120-C-T
• MyVariant Identifiers: chr11:g.5274350C>T (hg19) ; chr11:g.5253120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253120C>T , CM000673.2:g.5253120C>T	GRCh38
NC_000011.9:g.5274350C>T , CM000673.1:g.5274350C>T	GRCh37
NC_000011.8:g.5230926C>T	NCBI36
NG_000007.3:g.44496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.315+1172G>A	ENSP00000495346.1:n.315+1172G>A
ENST00000647543.1:c.378+223G>A	ENSP00000496470.1:n.378+223G>A
ENST00000620888.4:c.315+1172G>A	ENSP00000479637.1:n.315+1172G>A