Canonical Allele Identifier: CA378422467

Gene: HABP2

Linked Data

• gnomAD v4: 10-113588333-G-A
• COSMIC: COSM1703046
• MyVariant Identifiers: chr10:g.115348092G>A (hg19) ; chr10:g.113588333G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588333G>A , CM000672.2:g.113588333G>A	GRCh38
NC_000010.10:g.115348092G>A , CM000672.1:g.115348092G>A	GRCh37
NC_000010.9:g.115338082G>A	NCBI36
NG_008956.1:g.40315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.1647G>A MANE Select	ENSP00000277903.4:p.Trp549Ter
ENST00000351270.3:c.1647G>A	ENSP00000277903.4:p.Trp549Ter
ENST00000542051.5:c.1569G>A	ENSP00000443283.1:p.Trp523Ter
NM_001177660.1:c.1569G>A	NP_001171131.1:p.Trp523Ter
NM_004132.3:c.1647G>A	NP_004123.1:p.Trp549Ter
NM_001177660.2:c.1569G>A	NP_001171131.1:p.Trp523Ter
NM_004132.4:c.1647G>A	NP_004123.1:p.Trp549Ter
NM_004132.5:c.1647G>A MANE Select	NP_004123.1:p.Trp549Ter
NM_001177660.3:c.1569G>A	NP_001171131.1:p.Trp523Ter