Canonical Allele Identifier: CA932723576
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1845254924
gnomAD v3: 10-113569097-T-C
gnomAD v4: 10-113569097-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113569097T>C , CM000672.2:g.113569097T>C GRCh38
NC_000010.10:g.115328856T>C , CM000672.1:g.115328856T>C GRCh37
NC_000010.9:g.115318846T>C NCBI36
NG_008956.1:g.21079T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.106+1572T>C MANE Select ENSP00000277903.4:n.106+1572T>C
ENST00000351270.3:c.106+1572T>C ENSP00000277903.4:n.106+1572T>C
ENST00000460714.1:n.43-547T>C
ENST00000542051.5:c.28+1572T>C ENSP00000443283.1:n.28+1572T>C
NM_001177660.1:c.28+1572T>C NP_001171131.1:n.28+1572T>C
NM_004132.3:c.106+1572T>C NP_004123.1:n.106+1572T>C
NM_001177660.2:c.28+1572T>C NP_001171131.1:n.28+1572T>C
NM_004132.4:c.106+1572T>C NP_004123.1:n.106+1572T>C
NM_004132.5:c.106+1572T>C MANE Select NP_004123.1:n.106+1572T>C
NM_001177660.3:c.28+1572T>C NP_001171131.1:n.28+1572T>C
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