Canonical Allele Identifier: CA379280352

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1159537316
• gnomAD v2: 11-5270949-A-G
• MyVariant Identifiers: chr11:g.5270949A>G (hg19) ; chr11:g.5249719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249719A>G , CM000673.2:g.5249719A>G	GRCh38
NC_000011.9:g.5270949A>G , CM000673.1:g.5270949A>G	GRCh37
NC_000011.8:g.5227525A>G	NCBI36
NG_000007.3:g.47897T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330597.5:c.86T>C (HBG1) MANE Select	ENSP00000327431.4:p.Leu29Pro
ENST00000642908.1:c.316-1232T>C	ENSP00000495346.1:n.316-1232T>C
ENST00000647543.1:c.379-1232T>C	ENSP00000496470.1:n.379-1232T>C
ENST00000648735.1:n.137T>C (HBG1)
ENST00000330597.3:c.86T>C (HBG1)	ENSP00000327431.3:p.Leu29Pro
ENST00000620888.4:c.316-1232T>C (HBG2)	ENSP00000479637.1:n.316-1232T>C
ENST00000623781.1:c.272A>G	ENSP00000485381.1:p.Gln91Arg
ENST00000632727.1:c.54+32T>C (HBG1)	ENSP00000488759.1:n.54+32T>C
NM_000559.2:c.86T>C (HBG1)	NP_000550.2:p.Leu29Pro
NM_000559.3:c.86T>C (HBG1) MANE Select	NP_000550.2:p.Leu29Pro