Canonical Allele Identifier: CA932715901
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1845722188
gnomAD v3: 10-113588601-C-A
gnomAD v4: 10-113588601-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588601C>A , CM000672.2:g.113588601C>A GRCh38
NC_000010.10:g.115348360C>A , CM000672.1:g.115348360C>A GRCh37
NC_000010.9:g.115338350C>A NCBI36
NG_008956.1:g.40583C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.*232C>A MANE Select ENSP00000277903.4:n.*232C>A
ENST00000351270.3:c.*232C>A ENSP00000277903.4:n.*232C>A
ENST00000542051.5:c.*232C>A ENSP00000443283.1:n.*232C>A
NM_001177660.1:c.*232C>A NP_001171131.1:n.*232C>A
NM_004132.3:c.*232C>A NP_004123.1:n.*232C>A
NM_001177660.2:c.*232C>A NP_001171131.1:n.*232C>A
NM_004132.4:c.*232C>A NP_004123.1:n.*232C>A
NM_004132.5:c.*232C>A MANE Select NP_004123.1:n.*232C>A
NM_001177660.3:c.*232C>A NP_001171131.1:n.*232C>A
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