Canonical Allele Identifier: CA595756569

Gene: HABP2

Linked Data

• dbSNP Id: rs1245793920
• gnomAD v2: 10-115330590-G-A
• gnomAD v3: 10-113570831-G-A
• gnomAD v4: 10-113570831-G-A
• MyVariant Identifiers: chr10:g.115330590G>A (hg19) ; chr10:g.113570831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113570831G>A , CM000672.2:g.113570831G>A	GRCh38
NC_000010.10:g.115330590G>A , CM000672.1:g.115330590G>A	GRCh37
NC_000010.9:g.115320580G>A	NCBI36
NG_008956.1:g.22813G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000351270.4:c.106+3306G>A MANE Select	ENSP00000277903.4:n.106+3306G>A
ENST00000351270.3:c.106+3306G>A	ENSP00000277903.4:n.106+3306G>A
ENST00000542051.5:c.28+3306G>A	ENSP00000443283.1:n.28+3306G>A
NM_001177660.1:c.28+3306G>A	NP_001171131.1:n.28+3306G>A
NM_004132.3:c.106+3306G>A	NP_004123.1:n.106+3306G>A
NM_001177660.2:c.28+3306G>A	NP_001171131.1:n.28+3306G>A
NM_004132.4:c.106+3306G>A	NP_004123.1:n.106+3306G>A
NM_004132.5:c.106+3306G>A MANE Select	NP_004123.1:n.106+3306G>A
NM_001177660.3:c.28+3306G>A	NP_001171131.1:n.28+3306G>A