Canonical Allele Identifier: CA378422247
Gene: HABP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588296C>T , CM000672.2:g.113588296C>T GRCh38
NC_000010.10:g.115348055C>T , CM000672.1:g.115348055C>T GRCh37
NC_000010.9:g.115338045C>T NCBI36
NG_008956.1:g.40278C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351270.4:c.1610C>T MANE Select ENSP00000277903.4:p.Pro537Leu
ENST00000351270.3:c.1610C>T ENSP00000277903.4:p.Pro537Leu
ENST00000542051.5:c.1532C>T ENSP00000443283.1:p.Pro511Leu
NM_001177660.1:c.1532C>T NP_001171131.1:p.Pro511Leu
NM_004132.3:c.1610C>T NP_004123.1:p.Pro537Leu
NM_001177660.2:c.1532C>T NP_001171131.1:p.Pro511Leu
NM_004132.4:c.1610C>T NP_004123.1:p.Pro537Leu
NM_004132.5:c.1610C>T MANE Select NP_004123.1:p.Pro537Leu
NM_001177660.3:c.1532C>T NP_001171131.1:p.Pro511Leu