Canonical Allele Identifier: CA595756580
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1257775218
gnomAD v2: 10-115331082-AC-A
gnomAD v3: 10-113571323-AC-A
gnomAD v4: 10-113571323-AC-A
MyVariant Identifiers: chr10:g.115331083del (hg19) chr10:g.113571324del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113571325del , CM000672.2:g.113571325del GRCh38
NC_000010.10:g.115331084del , CM000672.1:g.115331084del GRCh37
NC_000010.9:g.115321074del NCBI36
NG_008956.1:g.23307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.107-2964del MANE Select ENSP00000277903.4:n.107-2964del
ENST00000351270.3:c.107-2964del ENSP00000277903.4:n.107-2964del
ENST00000542051.5:c.29-2964del ENSP00000443283.1:n.29-2964del
NM_001177660.1:c.29-2964del NP_001171131.1:n.29-2964del
NM_004132.3:c.107-2964del NP_004123.1:n.107-2964del
NM_001177660.2:c.29-2964del NP_001171131.1:n.29-2964del
NM_004132.4:c.107-2964del NP_004123.1:n.107-2964del
NM_004132.5:c.107-2964del MANE Select NP_004123.1:n.107-2964del
NM_001177660.3:c.29-2964del NP_001171131.1:n.29-2964del
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