Canonical Allele Identifier: CA10631049
Gene: HABP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 298925
ClinVar RCV Id: RCV000288482
dbSNP Id: rs552422428
gnomAD v2: 10-115348386-C-T
gnomAD v3: 10-113588627-C-T
gnomAD v4: 10-113588627-C-T
MyVariant Identifiers: chr10:g.115348386C>T (hg19) chr10:g.113588627C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588627C>T , CM000672.2:g.113588627C>T GRCh38
NC_000010.10:g.115348386C>T , CM000672.1:g.115348386C>T GRCh37
NC_000010.9:g.115338376C>T NCBI36
NG_008956.1:g.40609C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.*258C>T MANE Select ENSP00000277903.4:n.*258C>T
ENST00000351270.3:c.*258C>T ENSP00000277903.4:n.*258C>T
ENST00000542051.5:c.*258C>T ENSP00000443283.1:n.*258C>T
NM_001177660.1:c.*258C>T NP_001171131.1:n.*258C>T
NM_004132.3:c.*258C>T NP_004123.1:n.*258C>T
NM_001177660.2:c.*258C>T NP_001171131.1:n.*258C>T
NM_004132.4:c.*258C>T NP_004123.1:n.*258C>T
NM_004132.5:c.*258C>T MANE Select NP_004123.1:n.*258C>T
NM_001177660.3:c.*258C>T NP_001171131.1:n.*258C>T
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