Canonical Allele Identifier: CA124572
Gene: HBG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5253366A>G
GRCh37 chr11:g.5274596A>G
Revel Score:
ENST00000380252 0.493
ENST00000380259 0.493
ENST00000336906 (MANE Select) 0.493
ENST00000380247 0.493
ClinVar RCV:
RCV000016142
ClinVar Variation:
15002
dbSNP:
35020253
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253366A>G , CM000673.2:g.5253366A>G GRCh38
NC_000011.9:g.5274596A>G , CM000673.1:g.5274596A>G GRCh37
NC_000011.8:g.5231172A>G NCBI36
NG_000007.3:g.44250T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.355T>C MANE Select ENSP00000338082.4:p.Phe119Leu
ENST00000380252.6:c.190T>C ENSP00000369602.2:p.Phe64Leu
ENST00000642908.1:c.315+926T>C ENSP00000495346.1:n.315+926T>C
ENST00000647543.1:c.355T>C ENSP00000496470.1:p.Phe119Leu
ENST00000336906.4:c.355T>C ENSP00000338082.4:p.Phe119Leu
ENST00000380252.5:c.325T>C ENSP00000369602.1:p.Phe109Leu
ENST00000380259.6:c.355T>C ENSP00000369609.2:p.Phe119Leu
ENST00000620888.4:c.315+926T>C ENSP00000479637.1:n.315+926T>C
NM_000184.2:c.355T>C NP_000175.1:p.Phe119Leu
NM_000184.3:c.355T>C MANE Select NP_000175.1:p.Phe119Leu
Search 100 bp 5'
Search 100 bp 3'