Canonical Allele Identifier: CA1937429273

Gene: HABP2

Linked Data

• dbSNP Id: rs1845712922
• gnomAD v3: 10-113588444-A-C
• gnomAD v4: 10-113588444-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588444A>C , CM000672.2:g.113588444A>C	GRCh38
NC_000010.10:g.115348203A>C , CM000672.1:g.115348203A>C	GRCh37
NC_000010.9:g.115338193A>C	NCBI36
NG_008956.1:g.40426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*75A>C MANE Select	ENSP00000277903.4:n.*75A>C
ENST00000351270.3:c.*75A>C	ENSP00000277903.4:n.*75A>C
ENST00000542051.5:c.*75A>C	ENSP00000443283.1:n.*75A>C
NM_001177660.1:c.*75A>C	NP_001171131.1:n.*75A>C
NM_004132.3:c.*75A>C	NP_004123.1:n.*75A>C
NM_001177660.2:c.*75A>C	NP_001171131.1:n.*75A>C
NM_004132.4:c.*75A>C	NP_004123.1:n.*75A>C
NM_004132.5:c.*75A>C MANE Select	NP_004123.1:n.*75A>C
NM_001177660.3:c.*75A>C	NP_001171131.1:n.*75A>C