Canonical Allele Identifier: CA596112898

Gene: HABP2

Linked Data

• dbSNP Id: rs1306463794
• gnomAD v2: 10-115348173-G-C
• gnomAD v4: 10-113588414-G-C
• MyVariant Identifiers: chr10:g.115348173G>C (hg19) ; chr10:g.113588414G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588414G>C , CM000672.2:g.113588414G>C	GRCh38
NC_000010.10:g.115348173G>C , CM000672.1:g.115348173G>C	GRCh37
NC_000010.9:g.115338163G>C	NCBI36
NG_008956.1:g.40396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*45G>C MANE Select	ENSP00000277903.4:n.*45G>C
ENST00000351270.3:c.*45G>C	ENSP00000277903.4:n.*45G>C
ENST00000542051.5:c.*45G>C	ENSP00000443283.1:n.*45G>C
NM_001177660.1:c.*45G>C	NP_001171131.1:n.*45G>C
NM_004132.3:c.*45G>C	NP_004123.1:n.*45G>C
NM_001177660.2:c.*45G>C	NP_001171131.1:n.*45G>C
NM_004132.4:c.*45G>C	NP_004123.1:n.*45G>C
NM_004132.5:c.*45G>C MANE Select	NP_004123.1:n.*45G>C
NM_001177660.3:c.*45G>C	NP_001171131.1:n.*45G>C