Canonical Allele Identifier: CA934697699

Gene: HBG2

Linked Data

• dbSNP Id: rs1847998327
• gnomAD v3: 11-5254631-G-C
• gnomAD v4: 11-5254631-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254631G>C , CM000673.2:g.5254631G>C	GRCh38
NC_000011.9:g.5275861G>C , CM000673.1:g.5275861G>C	GRCh37
NC_000011.8:g.5232437G>C	NCBI36
NG_000007.3:g.42985C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.92+6C>G MANE Select	ENSP00000338082.4:n.92+6C>G
ENST00000380252.6:c.-73-117C>G	ENSP00000369602.2:n.-73-117C>G
ENST00000380259.7:c.1638+6C>G	ENSP00000369609.3:n.1638+6C>G
ENST00000642908.1:c.92+6C>G	ENSP00000495346.1:n.92+6C>G
ENST00000647543.1:c.92+6C>G	ENSP00000496470.1:n.92+6C>G
ENST00000336906.4:c.92+6C>G	ENSP00000338082.4:n.92+6C>G
ENST00000380252.5:c.63-117C>G	ENSP00000369602.1:n.63-117C>G
ENST00000380259.6:c.92+6C>G	ENSP00000369609.2:n.92+6C>G
ENST00000444587.1:c.54+44C>G	ENSP00000488218.1:n.54+44C>G
ENST00000620888.4:c.92+6C>G	ENSP00000479637.1:n.92+6C>G
ENST00000624109.1:c.265-5G>C	ENSP00000485458.1:n.265-5G>C
NM_000184.2:c.92+6C>G	NP_000175.1:n.92+6C>G
NM_000184.3:c.92+6C>G MANE Select	NP_000175.1:n.92+6C>G