Canonical Allele Identifier: CA214443915

Gene: HABP2

Linked Data

• dbSNP Id: rs993899579
• gnomAD v4: 10-113588417-A-G
• MyVariant Identifiers: chr10:g.115348176A>G (hg19) ; chr10:g.113588417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588417A>G , CM000672.2:g.113588417A>G	GRCh38
NC_000010.10:g.115348176A>G , CM000672.1:g.115348176A>G	GRCh37
NC_000010.9:g.115338166A>G	NCBI36
NG_008956.1:g.40399A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*48A>G MANE Select	ENSP00000277903.4:n.*48A>G
ENST00000351270.3:c.*48A>G	ENSP00000277903.4:n.*48A>G
ENST00000542051.5:c.*48A>G	ENSP00000443283.1:n.*48A>G
NM_001177660.1:c.*48A>G	NP_001171131.1:n.*48A>G
NM_004132.3:c.*48A>G	NP_004123.1:n.*48A>G
NM_001177660.2:c.*48A>G	NP_001171131.1:n.*48A>G
NM_004132.4:c.*48A>G	NP_004123.1:n.*48A>G
NM_004132.5:c.*48A>G MANE Select	NP_004123.1:n.*48A>G
NM_001177660.3:c.*48A>G	NP_001171131.1:n.*48A>G