Canonical Allele Identifier: CA379264369

Gene: HBG2

Linked Data

• dbSNP Id: rs587776864
• gnomAD v2: 11-5275635-C-A
• gnomAD v3: 11-5254405-C-A
• gnomAD v4: 11-5254405-C-A
• MyVariant Identifiers: chr11:g.5275635C>A (hg19) ; chr11:g.5254405C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254405C>A , CM000673.2:g.5254405C>A	GRCh38
NC_000011.9:g.5275635C>A , CM000673.1:g.5275635C>A	GRCh37
NC_000011.8:g.5232211C>A	NCBI36
NG_000007.3:g.43211G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.202G>T MANE Select	ENSP00000338082.4:p.Val68Leu
ENST00000380252.6:c.37G>T	ENSP00000369602.2:p.Val13Leu
ENST00000380259.7:c.1748G>T	ENSP00000369609.3:n.1748G>T
ENST00000642908.1:c.202G>T	ENSP00000495346.1:p.Val68Leu
ENST00000647543.1:c.202G>T	ENSP00000496470.1:p.Val68Leu
ENST00000336906.4:c.202G>T	ENSP00000338082.4:p.Val68Leu
ENST00000380252.5:c.172G>T	ENSP00000369602.1:p.Val58Leu
ENST00000380259.6:c.202G>T	ENSP00000369609.2:p.Val68Leu
ENST00000444587.1:c.*71G>T	ENSP00000488218.1:n.*71G>T
ENST00000620888.4:c.202G>T	ENSP00000479637.1:p.Val68Leu
ENST00000624109.1:c.153C>A	ENSP00000485458.1:p.His51Gln
NM_000184.2:c.202G>T	NP_000175.1:p.Val68Leu
NM_000184.3:c.202G>T MANE Select	NP_000175.1:p.Val68Leu