Canonical Allele Identifier: CA124543
Gene: HBG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14982
ClinVar RCV Id: RCV001814960
dbSNP Id: rs35617911
gnomAD v3: 11-5254983-G-C
gnomAD v4: 11-5254983-G-C
MyVariant Identifiers: chr11:g.5276213G>C (hg19) chr11:g.5254983G>C (hg38)
PubMed: PMID:6205403 PMID:6208955
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254983G>C , CM000673.2:g.5254983G>C GRCh38
NC_000011.9:g.5276213G>C , CM000673.1:g.5276213G>C GRCh37
NC_000011.8:g.5232789G>C NCBI36
NG_000007.3:g.42633C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380252.6:c.-73-469C>G ENSP00000369602.2:n.-73-469C>G
ENST00000380259.7:c.1292C>G ENSP00000369609.3:n.1292C>G
ENST00000643199.1:n.1235C>G
ENST00000646569.1:n.462C>G
ENST00000380252.5:c.63-469C>G ENSP00000369602.1:n.63-469C>G
ENST00000380259.6:c.-255C>G ENSP00000369609.2:n.-255C>G
Search 100 bp 5'
Search 100 bp 3'