Canonical Allele Identifier: CA2573054150

Gene: HBA2

Linked Data

• ClinVar Variation Id: 1339728
• ClinVar RCV Id: RCV001825116
• dbSNP Id: rs778442461

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173459_173460insGGCCCCC , CM000678.2:g.173459_173460insGGCCCCC	GRCh38
NC_000016.9:g.223458_223459insGGCCCCC , CM000678.1:g.223458_223459insGGCCCCC	GRCh37
NC_000016.8:g.163458_163459insGGCCCCC	NCBI36
NG_000006.1:g.34322_34323insGGCCCCC
NG_059186.1:g.1809_1810insGGCCCCC
NG_059271.1:g.5613_5614insGGCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.301-13_301-12insGGCCCCC MANE Select	ENSP00000251595.6:n.301-13_301-12insGGCCCCC
ENST00000251595.10:c.301-13_301-12insGGCCCCC	ENSP00000251595.6:n.301-13_301-12insGGCCCCC
ENST00000397806.1:c.205-13_205-12insGGCCCCC	ENSP00000380908.1:n.205-13_205-12insGGCCCCC
ENST00000482565.1:n.437-13_437-12insGGCCCCC
ENST00000484216.1:n.399_400insGGCCCCC
NM_000517.4:c.301-13_301-12insGGCCCCC	NP_000508.1:n.301-13_301-12insGGCCCCC
NM_000517.6:c.301-13_301-12insGGCCCCC MANE Select	NP_000508.1:n.301-13_301-12insGGCCCCC