Canonical Allele Identifier: CA1949577435
Community Standard Title: NM_000184.3(HBG2):c.202G= (p.Val68=)
Gene: HBG2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000184.3:c.202G= MANE Select NP_000175.1:p.Val68=
ENST00000336906.6:c.202G= MANE Select ENSP00000338082.4:p.Val68=
NM_000184.2:c.202G= NP_000175.1:p.Val68=
ENST00000336906.4:c.202G= ENSP00000338082.4:p.Val68=
ENST00000380252.5:c.172G= ENSP00000369602.1:p.Val58=
ENST00000380252.6:c.37G= ENSP00000369602.2:p.Val13=
ENST00000380259.6:c.202G= ENSP00000369609.2:p.Val68=
ENST00000380259.7:c.1748G= ENSP00000369609.3:n.1748G=
ENST00000444587.1:c.*71G= ENSP00000488218.1:n.*71G=
ENST00000620888.4:c.202G= ENSP00000479637.1:p.Val68=
ENST00000624109.1:c.153C= ENSP00000485458.1:p.His51=
ENST00000642908.1:c.202G= ENSP00000495346.1:p.Val68=
ENST00000647543.1:c.202G= ENSP00000496470.1:p.Val68=