Canonical Allele Identifier: CA379263507

Gene: HBG2

Linked Data

• dbSNP Id: rs1395069373
• gnomAD v2: 11-5274532-C-T
• gnomAD v4: 11-5253302-C-T
• MyVariant Identifiers: chr11:g.5274532C>T (hg19) ; chr11:g.5253302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253302C>T , CM000673.2:g.5253302C>T	GRCh38
NC_000011.9:g.5274532C>T , CM000673.1:g.5274532C>T	GRCh37
NC_000011.8:g.5231108C>T	NCBI36
NG_000007.3:g.44314G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.419G>A MANE Select	ENSP00000338082.4:p.Ser140Asn
ENST00000380252.6:c.254G>A	ENSP00000369602.2:p.Ser85Asn
ENST00000642908.1:c.315+990G>A	ENSP00000495346.1:n.315+990G>A
ENST00000647543.1:c.378+41G>A	ENSP00000496470.1:n.378+41G>A
ENST00000336906.4:c.419G>A	ENSP00000338082.4:p.Ser140Asn
ENST00000380252.5:c.389G>A	ENSP00000369602.1:p.Ser130Asn
ENST00000380259.6:c.419G>A	ENSP00000369609.2:p.Ser140Asn
ENST00000620888.4:c.315+990G>A	ENSP00000479637.1:n.315+990G>A
NM_000184.2:c.419G>A	NP_000175.1:p.Ser140Asn
NM_000184.3:c.419G>A MANE Select	NP_000175.1:p.Ser140Asn