Canonical Allele Identifier: CA378422640

Gene: HABP2

Linked Data

• dbSNP Id: rs1238623373
• gnomAD v2: 10-115348123-T-C
• gnomAD v4: 10-113588364-T-C
• MyVariant Identifiers: chr10:g.115348123T>C (hg19) ; chr10:g.113588364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588364T>C , CM000672.2:g.113588364T>C	GRCh38
NC_000010.10:g.115348123T>C , CM000672.1:g.115348123T>C	GRCh37
NC_000010.9:g.115338113T>C	NCBI36
NG_008956.1:g.40346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.1678T>C MANE Select	ENSP00000277903.4:p.Phe560Leu
ENST00000351270.3:c.1678T>C	ENSP00000277903.4:p.Phe560Leu
ENST00000542051.5:c.1600T>C	ENSP00000443283.1:p.Phe534Leu
NM_001177660.1:c.1600T>C	NP_001171131.1:p.Phe534Leu
NM_004132.3:c.1678T>C	NP_004123.1:p.Phe560Leu
NM_001177660.2:c.1600T>C	NP_001171131.1:p.Phe534Leu
NM_004132.4:c.1678T>C	NP_004123.1:p.Phe560Leu
NM_004132.5:c.1678T>C MANE Select	NP_004123.1:p.Phe560Leu
NM_001177660.3:c.1600T>C	NP_001171131.1:p.Phe534Leu