Canonical Allele Identifier: CA214444015

Gene: HABP2

Linked Data

• dbSNP Id: rs971665299
• gnomAD v2: 10-115348363-C-CAT
• gnomAD v3: 10-113588604-C-CAT
• gnomAD v4: 10-113588604-C-CAT
• MyVariant Identifiers: chr10:g.115348363_115348364insAT (hg19) ; chr10:g.113588604_113588605insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588606_113588607dup , CM000672.2:g.113588606_113588607dup	GRCh38
NC_000010.10:g.115348365_115348366dup , CM000672.1:g.115348365_115348366dup	GRCh37
NC_000010.9:g.115338355_115338356dup	NCBI36
NG_008956.1:g.40588_40589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*237_*238dup MANE Select	ENSP00000277903.4:n.*237_*238dup
ENST00000351270.3:c.*237_*238dup	ENSP00000277903.4:n.*237_*238dup
ENST00000542051.5:c.*237_*238dup	ENSP00000443283.1:n.*237_*238dup
NM_001177660.1:c.*237_*238dup	NP_001171131.1:n.*237_*238dup
NM_004132.3:c.*237_*238dup	NP_004123.1:n.*237_*238dup
NM_001177660.2:c.*237_*238dup	NP_001171131.1:n.*237_*238dup
NM_004132.4:c.*237_*238dup	NP_004123.1:n.*237_*238dup
NM_004132.5:c.*237_*238dup MANE Select	NP_004123.1:n.*237_*238dup
NM_001177660.3:c.*237_*238dup	NP_001171131.1:n.*237_*238dup