Canonical Allele Identifier: CA124560
Gene: HBG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5254429T>G
GRCh37 chr11:g.5275659T>G
Revel Score:
ENST00000380252 0.608
ENST00000380259 0.608
ENST00000336906 (MANE Select) 0.608
ENST00000380247 0.608
gnomAD v2:
11:5275659 T / G
gnomAD v4:
chr11-5254429-T-G
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000016133
ClinVar Variation:
14993
dbSNP:
28933078
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254429T>G , CM000673.2:g.5254429T>G GRCh38
NC_000011.9:g.5275659T>G , CM000673.1:g.5275659T>G GRCh37
NC_000011.8:g.5232235T>G NCBI36
NG_000007.3:g.43187A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.178A>C MANE Select ENSP00000338082.4:p.Lys60Gln
ENST00000380252.6:c.13A>C ENSP00000369602.2:p.Lys5Gln
ENST00000380259.7:c.1724A>C ENSP00000369609.3:n.1724A>C
ENST00000642908.1:c.178A>C ENSP00000495346.1:p.Lys60Gln
ENST00000647543.1:c.178A>C ENSP00000496470.1:p.Lys60Gln
ENST00000336906.4:c.178A>C ENSP00000338082.4:p.Lys60Gln
ENST00000380252.5:c.148A>C ENSP00000369602.1:p.Lys50Gln
ENST00000380259.6:c.178A>C ENSP00000369609.2:p.Lys60Gln
ENST00000444587.1:c.*47A>C ENSP00000488218.1:n.*47A>C
ENST00000620888.4:c.178A>C ENSP00000479637.1:p.Lys60Gln
ENST00000624109.1:c.177T>G ENSP00000485458.1:p.Phe59Leu
NM_000184.2:c.178A>C NP_000175.1:p.Lys60Gln
NM_000184.3:c.178A>C MANE Select NP_000175.1:p.Lys60Gln
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