Canonical Allele Identifier: CA932724512

Gene: HABP2

Linked Data

• dbSNP Id: rs1845301311
• gnomAD v3: 10-113571168-G-T
• gnomAD v4: 10-113571168-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113571168G>T , CM000672.2:g.113571168G>T	GRCh38
NC_000010.10:g.115330927G>T , CM000672.1:g.115330927G>T	GRCh37
NC_000010.9:g.115320917G>T	NCBI36
NG_008956.1:g.23150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.107-3121G>T MANE Select	ENSP00000277903.4:n.107-3121G>T
ENST00000351270.3:c.107-3121G>T	ENSP00000277903.4:n.107-3121G>T
ENST00000542051.5:c.29-3121G>T	ENSP00000443283.1:n.29-3121G>T
NM_001177660.1:c.29-3121G>T	NP_001171131.1:n.29-3121G>T
NM_004132.3:c.107-3121G>T	NP_004123.1:n.107-3121G>T
NM_001177660.2:c.29-3121G>T	NP_001171131.1:n.29-3121G>T
NM_004132.4:c.107-3121G>T	NP_004123.1:n.107-3121G>T
NM_004132.5:c.107-3121G>T MANE Select	NP_004123.1:n.107-3121G>T
NM_001177660.3:c.29-3121G>T	NP_001171131.1:n.29-3121G>T