Canonical Allele Identifier: CA214444000

Gene: HABP2

Linked Data

• dbSNP Id: rs947498742
• gnomAD v2: 10-115348326-T-A
• gnomAD v3: 10-113588567-T-A
• gnomAD v4: 10-113588567-T-A
• MyVariant Identifiers: chr10:g.115348326T>A (hg19) ; chr10:g.113588567T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588567T>A , CM000672.2:g.113588567T>A	GRCh38
NC_000010.10:g.115348326T>A , CM000672.1:g.115348326T>A	GRCh37
NC_000010.9:g.115338316T>A	NCBI36
NG_008956.1:g.40549T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*198T>A MANE Select	ENSP00000277903.4:n.*198T>A
ENST00000351270.3:c.*198T>A	ENSP00000277903.4:n.*198T>A
ENST00000542051.5:c.*198T>A	ENSP00000443283.1:n.*198T>A
NM_001177660.1:c.*198T>A	NP_001171131.1:n.*198T>A
NM_004132.3:c.*198T>A	NP_004123.1:n.*198T>A
NM_001177660.2:c.*198T>A	NP_001171131.1:n.*198T>A
NM_004132.4:c.*198T>A	NP_004123.1:n.*198T>A
NM_004132.5:c.*198T>A MANE Select	NP_004123.1:n.*198T>A
NM_001177660.3:c.*198T>A	NP_001171131.1:n.*198T>A