Canonical Allele Identifier: CA378422478
Gene: HABP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588334A>G , CM000672.2:g.113588334A>G GRCh38
NC_000010.10:g.115348093A>G , CM000672.1:g.115348093A>G GRCh37
NC_000010.9:g.115338083A>G NCBI36
NG_008956.1:g.40316A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.1648A>G MANE Select ENSP00000277903.4:p.Ile550Val
ENST00000351270.3:c.1648A>G ENSP00000277903.4:p.Ile550Val
ENST00000542051.5:c.1570A>G ENSP00000443283.1:p.Ile524Val
NM_001177660.1:c.1570A>G NP_001171131.1:p.Ile524Val
NM_004132.3:c.1648A>G NP_004123.1:p.Ile550Val
NM_001177660.2:c.1570A>G NP_001171131.1:p.Ile524Val
NM_004132.4:c.1648A>G NP_004123.1:p.Ile550Val
NM_004132.5:c.1648A>G MANE Select NP_004123.1:p.Ile550Val
NM_001177660.3:c.1570A>G NP_001171131.1:p.Ile524Val