Canonical Allele Identifier: CA5694108
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs780137775
ExAC: 10:115348147 T / G
gnomAD v2: 10-115348147-T-G
gnomAD v4: 10-113588388-T-G
MyVariant Identifiers: chr10:g.115348147T>G (hg19) chr10:g.113588388T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588388T>G , CM000672.2:g.113588388T>G GRCh38
NC_000010.10:g.115348147T>G , CM000672.1:g.115348147T>G GRCh37
NC_000010.9:g.115338137T>G NCBI36
NG_008956.1:g.40370T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.*19T>G MANE Select ENSP00000277903.4:n.*19T>G
ENST00000351270.3:c.*19T>G ENSP00000277903.4:n.*19T>G
ENST00000542051.5:c.*19T>G ENSP00000443283.1:n.*19T>G
NM_001177660.1:c.*19T>G NP_001171131.1:n.*19T>G
NM_004132.3:c.*19T>G NP_004123.1:n.*19T>G
NM_001177660.2:c.*19T>G NP_001171131.1:n.*19T>G
NM_004132.4:c.*19T>G NP_004123.1:n.*19T>G
NM_004132.5:c.*19T>G MANE Select NP_004123.1:n.*19T>G
NM_001177660.3:c.*19T>G NP_001171131.1:n.*19T>G
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