Canonical Allele Identifier: CA5840280

Gene: HBG2

Linked Data

• dbSNP Id: rs746279214
• ExAC: 11:5275756 A / G
• gnomAD v2: 11-5275756-A-G
• gnomAD v3: 11-5254526-A-G
• gnomAD v4: 11-5254526-A-G
• MyVariant Identifiers: chr11:g.5275756A>G (hg19) ; chr11:g.5254526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254526A>G , CM000673.2:g.5254526A>G	GRCh38
NC_000011.9:g.5275756A>G , CM000673.1:g.5275756A>G	GRCh37
NC_000011.8:g.5232332A>G	NCBI36
NG_000007.3:g.43090T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.93-12T>C MANE Select	ENSP00000338082.4:n.93-12T>C
ENST00000380252.6:c.-73-12T>C	ENSP00000369602.2:n.-73-12T>C
ENST00000380259.7:c.1639-12T>C	ENSP00000369609.3:n.1639-12T>C
ENST00000642908.1:c.93-12T>C	ENSP00000495346.1:n.93-12T>C
ENST00000647543.1:c.93-12T>C	ENSP00000496470.1:n.93-12T>C
ENST00000336906.4:c.93-12T>C	ENSP00000338082.4:n.93-12T>C
ENST00000380252.5:c.63-12T>C	ENSP00000369602.1:n.63-12T>C
ENST00000380259.6:c.93-12T>C	ENSP00000369609.2:n.93-12T>C
ENST00000444587.1:c.55-12T>C	ENSP00000488218.1:n.55-12T>C
ENST00000620888.4:c.93-12T>C	ENSP00000479637.1:n.93-12T>C
ENST00000624109.1:c.264+10A>G	ENSP00000485458.1:n.264+10A>G
NM_000184.2:c.93-12T>C	NP_000175.1:n.93-12T>C
NM_000184.3:c.93-12T>C MANE Select	NP_000175.1:n.93-12T>C