Canonical Allele Identifier: CA5694077
Gene: HABP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 298921
ClinVar RCV Id: RCV000321532
dbSNP Id: rs143492790
ExAC: 10:115348000 G / A
gnomAD v2: 10-115348000-G-A
gnomAD v3: 10-113588241-G-A
gnomAD v4: 10-113588241-G-A
MyVariant Identifiers: chr10:g.115348000G>A (hg19) chr10:g.113588241G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588241G>A , CM000672.2:g.113588241G>A GRCh38
NC_000010.10:g.115348000G>A , CM000672.1:g.115348000G>A GRCh37
NC_000010.9:g.115337990G>A NCBI36
NG_008956.1:g.40223G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.1555G>A MANE Select ENSP00000277903.4:p.Gly519Ser
ENST00000351270.3:c.1555G>A ENSP00000277903.4:p.Gly519Ser
ENST00000542051.5:c.1477G>A ENSP00000443283.1:p.Gly493Ser
NM_001177660.1:c.1477G>A NP_001171131.1:p.Gly493Ser
NM_004132.3:c.1555G>A NP_004123.1:p.Gly519Ser
NM_001177660.2:c.1477G>A NP_001171131.1:p.Gly493Ser
NM_004132.4:c.1555G>A NP_004123.1:p.Gly519Ser
NM_004132.5:c.1555G>A MANE Select NP_004123.1:p.Gly519Ser
NM_001177660.3:c.1477G>A NP_001171131.1:p.Gly493Ser
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Search 100 bp 3'