Canonical Allele Identifier: CA214444024

Gene: HABP2

Linked Data

• dbSNP Id: rs927465537
• gnomAD v3: 10-113588610-A-ATGT
• gnomAD v4: 10-113588610-A-ATGT
• MyVariant Identifiers: chr10:g.115348369_115348370insTGT (hg19) ; chr10:g.113588610_113588611insTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588612_113588614dup , CM000672.2:g.113588612_113588614dup	GRCh38
NC_000010.10:g.115348371_115348373dup , CM000672.1:g.115348371_115348373dup	GRCh37
NC_000010.9:g.115338361_115338363dup	NCBI36
NG_008956.1:g.40594_40596dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*243_*245dup MANE Select	ENSP00000277903.4:n.*243_*245dup
ENST00000351270.3:c.*243_*245dup	ENSP00000277903.4:n.*243_*245dup
ENST00000542051.5:c.*243_*245dup	ENSP00000443283.1:n.*243_*245dup
NM_001177660.1:c.*243_*245dup	NP_001171131.1:n.*243_*245dup
NM_004132.3:c.*243_*245dup	NP_004123.1:n.*243_*245dup
NM_001177660.2:c.*243_*245dup	NP_001171131.1:n.*243_*245dup
NM_004132.4:c.*243_*245dup	NP_004123.1:n.*243_*245dup
NM_004132.5:c.*243_*245dup MANE Select	NP_004123.1:n.*243_*245dup
NM_001177660.3:c.*243_*245dup	NP_001171131.1:n.*243_*245dup