Canonical Allele Identifier: CA10635003
Gene: HABP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 298924
ClinVar RCV Id: RCV000382956
dbSNP Id: rs765311952
gnomAD v2: 10-115348364-A-C
gnomAD v3: 10-113588605-A-C
gnomAD v4: 10-113588605-A-C
MyVariant Identifiers: chr10:g.115348364A>C (hg19) chr10:g.113588605A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588605A>C , CM000672.2:g.113588605A>C GRCh38
NC_000010.10:g.115348364A>C , CM000672.1:g.115348364A>C GRCh37
NC_000010.9:g.115338354A>C NCBI36
NG_008956.1:g.40587A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.*236A>C MANE Select ENSP00000277903.4:n.*236A>C
ENST00000351270.3:c.*236A>C ENSP00000277903.4:n.*236A>C
ENST00000542051.5:c.*236A>C ENSP00000443283.1:n.*236A>C
NM_001177660.1:c.*236A>C NP_001171131.1:n.*236A>C
NM_004132.3:c.*236A>C NP_004123.1:n.*236A>C
NM_001177660.2:c.*236A>C NP_001171131.1:n.*236A>C
NM_004132.4:c.*236A>C NP_004123.1:n.*236A>C
NM_004132.5:c.*236A>C MANE Select NP_004123.1:n.*236A>C
NM_001177660.3:c.*236A>C NP_001171131.1:n.*236A>C
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