Canonical Allele Identifier: CA595756492

Gene: HABP2

Linked Data

• dbSNP Id: rs1385397275
• gnomAD v2: 10-115328894-G-T
• gnomAD v3: 10-113569135-G-T
• gnomAD v4: 10-113569135-G-T
• MyVariant Identifiers: chr10:g.115328894G>T (hg19) ; chr10:g.113569135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113569135G>T , CM000672.2:g.113569135G>T	GRCh38
NC_000010.10:g.115328894G>T , CM000672.1:g.115328894G>T	GRCh37
NC_000010.9:g.115318884G>T	NCBI36
NG_008956.1:g.21117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.106+1610G>T MANE Select	ENSP00000277903.4:n.106+1610G>T
ENST00000351270.3:c.106+1610G>T	ENSP00000277903.4:n.106+1610G>T
ENST00000460714.1:n.43-509G>T
ENST00000542051.5:c.28+1610G>T	ENSP00000443283.1:n.28+1610G>T
NM_001177660.1:c.28+1610G>T	NP_001171131.1:n.28+1610G>T
NM_004132.3:c.106+1610G>T	NP_004123.1:n.106+1610G>T
NM_001177660.2:c.28+1610G>T	NP_001171131.1:n.28+1610G>T
NM_004132.4:c.106+1610G>T	NP_004123.1:n.106+1610G>T
NM_004132.5:c.106+1610G>T MANE Select	NP_004123.1:n.106+1610G>T
NM_001177660.3:c.28+1610G>T	NP_001171131.1:n.28+1610G>T