Canonical Allele Identifier: CA214431647
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs11575727
gnomAD v2: 10-115330654-A-G
gnomAD v3: 10-113570895-A-G
gnomAD v4: 10-113570895-A-G
MyVariant Identifiers: chr10:g.115330654A>G (hg19) chr10:g.115330654_115330658delinsGAACT (hg19) chr10:g.113570895A>G (hg38) chr10:g.113570895_113570899delinsGAACT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113570895A>G , CM000672.2:g.113570895A>G GRCh38
NC_000010.10:g.115330654A>G , CM000672.1:g.115330654A>G GRCh37
NC_000010.9:g.115320644A>G NCBI36
NG_008956.1:g.22877A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351270.4:c.106+3370A>G MANE Select ENSP00000277903.4:n.106+3370A>G
ENST00000351270.3:c.106+3370A>G ENSP00000277903.4:n.106+3370A>G
ENST00000542051.5:c.28+3370A>G ENSP00000443283.1:n.28+3370A>G
NM_001177660.1:c.28+3370A>G NP_001171131.1:n.28+3370A>G
NM_004132.3:c.106+3370A>G NP_004123.1:n.106+3370A>G
NM_001177660.2:c.28+3370A>G NP_001171131.1:n.28+3370A>G
NM_004132.4:c.106+3370A>G NP_004123.1:n.106+3370A>G
NM_004132.5:c.106+3370A>G MANE Select NP_004123.1:n.106+3370A>G
NM_001177660.3:c.28+3370A>G NP_001171131.1:n.28+3370A>G
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