Canonical Allele Identifier: CA595756491

Gene: HABP2

Linked Data

• dbSNP Id: rs1162327513
• gnomAD v2: 10-115328893-A-G
• gnomAD v3: 10-113569134-A-G
• gnomAD v4: 10-113569134-A-G
• MyVariant Identifiers: chr10:g.115328893A>G (hg19) ; chr10:g.113569134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113569134A>G , CM000672.2:g.113569134A>G	GRCh38
NC_000010.10:g.115328893A>G , CM000672.1:g.115328893A>G	GRCh37
NC_000010.9:g.115318883A>G	NCBI36
NG_008956.1:g.21116A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000351270.4:c.106+1609A>G MANE Select	ENSP00000277903.4:n.106+1609A>G
ENST00000351270.3:c.106+1609A>G	ENSP00000277903.4:n.106+1609A>G
ENST00000460714.1:n.43-510A>G
ENST00000542051.5:c.28+1609A>G	ENSP00000443283.1:n.28+1609A>G
NM_001177660.1:c.28+1609A>G	NP_001171131.1:n.28+1609A>G
NM_004132.3:c.106+1609A>G	NP_004123.1:n.106+1609A>G
NM_001177660.2:c.28+1609A>G	NP_001171131.1:n.28+1609A>G
NM_004132.4:c.106+1609A>G	NP_004123.1:n.106+1609A>G
NM_004132.5:c.106+1609A>G MANE Select	NP_004123.1:n.106+1609A>G
NM_001177660.3:c.28+1609A>G	NP_001171131.1:n.28+1609A>G