Canonical Allele Identifier: CA5694115

Gene: HABP2

Linked Data

• dbSNP Id: rs745307755
• ExAC: 10:115348163 T / C
• gnomAD v2: 10-115348163-T-C
• gnomAD v3: 10-113588404-T-C
• gnomAD v4: 10-113588404-T-C
• MyVariant Identifiers: chr10:g.115348163T>C (hg19) ; chr10:g.113588404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588404T>C , CM000672.2:g.113588404T>C	GRCh38
NC_000010.10:g.115348163T>C , CM000672.1:g.115348163T>C	GRCh37
NC_000010.9:g.115338153T>C	NCBI36
NG_008956.1:g.40386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*35T>C MANE Select	ENSP00000277903.4:n.*35T>C
ENST00000351270.3:c.*35T>C	ENSP00000277903.4:n.*35T>C
ENST00000542051.5:c.*35T>C	ENSP00000443283.1:n.*35T>C
NM_001177660.1:c.*35T>C	NP_001171131.1:n.*35T>C
NM_004132.3:c.*35T>C	NP_004123.1:n.*35T>C
NM_001177660.2:c.*35T>C	NP_001171131.1:n.*35T>C
NM_004132.4:c.*35T>C	NP_004123.1:n.*35T>C
NM_004132.5:c.*35T>C MANE Select	NP_004123.1:n.*35T>C
NM_001177660.3:c.*35T>C	NP_001171131.1:n.*35T>C