Canonical Allele Identifier: CA13407889
Gene: HBE1 HGNC NCBI
HBG2 HGNC NCBI
OR51B5 HGNC NCBI
OR51I2 HGNC NCBI

Linked Data

dbSNP Id: rs7948471
gnomAD v2: 11-5471746-G-A
gnomAD v3: 11-5450516-G-A
gnomAD v4: 11-5450516-G-A
MyVariant Identifiers: chr11:g.5471746G>A (hg19) chr11:g.5450516G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5450516G>A , CM000673.2:g.5450516G>A GRCh38
NC_000011.9:g.5471746G>A , CM000673.1:g.5471746G>A GRCh37
NC_000011.8:g.5428322G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000292896.3:c.-267+55053C>T (HBE1) ENSP00000292896.2:n.-267+55053C>T
ENST00000380252.6:c.-74+54835C>T (HBG2) ENSP00000369602.2:n.-74+54835C>T
ENST00000380259.7:c.983-104617C>T ENSP00000369609.3:n.983-104617C>T
ENST00000415970.6:n.84+55053C>T (OR51B5)
ENST00000418729.1:n.84+55053C>T (OR51B5)
ENST00000420465.6:n.45+55053C>T (OR51B5)
ENST00000420726.6:n.45+55053C>T (OR51B5)
ENST00000641930.1:c.-231+1152G>A (OR51I2) MANE Select ENSP00000493016.1:n.-231+1152G>A
ENST00000380237.5:c.-310+55053C>T (HBE1) ENSP00000369586.1:n.-310+55053C>T
ENST00000380252.5:c.62+54835C>T (HBG2) ENSP00000369602.1:n.62+54835C>T
ENST00000380259.6:c.-564-104617C>T (HBG2) ENSP00000369609.2:n.-564-104617C>T
ENST00000396895.1:c.-267+55053C>T (HBE1) ENSP00000380104.1:n.-267+55053C>T
NM_001005567.2:c.-360+55053C>T (OR51B5) NP_001005567.2:n.-360+55053C>T
NR_038321.1:n.84+55053C>T (OR51B5)
XM_011520010.1:c.-360+478C>T (OR51B5) XP_011518312.1:n.-360+478C>T
NM_001005567.3:c.-360+55053C>T (OR51B5) NP_001005567.2:n.-360+55053C>T
NR_038321.2:n.84+55053C>T (OR51B5)
NM_001004754.3:c.-231+1152G>A (OR51I2) MANE Select NP_001004754.1:n.-231+1152G>A
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