Canonical Allele Identifier: CA214444022

Gene: HABP2

Linked Data

• dbSNP Id: rs980790514
• gnomAD v2: 10-115348366-A-AGTAT
• gnomAD v3: 10-113588607-A-AGTAT
• gnomAD v4: 10-113588607-A-AGTAT
• MyVariant Identifiers: chr10:g.115348366_115348367insGTAT (hg19) ; chr10:g.113588607_113588608insGTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588610_113588613dup , CM000672.2:g.113588610_113588613dup	GRCh38
NC_000010.10:g.115348369_115348372dup , CM000672.1:g.115348369_115348372dup	GRCh37
NC_000010.9:g.115338359_115338362dup	NCBI36
NG_008956.1:g.40592_40595dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*241_*244dup MANE Select	ENSP00000277903.4:n.*241_*244dup
ENST00000351270.3:c.*241_*244dup	ENSP00000277903.4:n.*241_*244dup
ENST00000542051.5:c.*241_*244dup	ENSP00000443283.1:n.*241_*244dup
NM_001177660.1:c.*241_*244dup	NP_001171131.1:n.*241_*244dup
NM_004132.3:c.*241_*244dup	NP_004123.1:n.*241_*244dup
NM_001177660.2:c.*241_*244dup	NP_001171131.1:n.*241_*244dup
NM_004132.4:c.*241_*244dup	NP_004123.1:n.*241_*244dup
NM_004132.5:c.*241_*244dup MANE Select	NP_004123.1:n.*241_*244dup
NM_001177660.3:c.*241_*244dup	NP_001171131.1:n.*241_*244dup