Canonical Allele Identifier: CA2675109987

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186569-G-GACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186573_128186576dup , CM000667.2:g.128186573_128186576dup	GRCh38
NC_000005.9:g.127522265_127522268dup , CM000667.1:g.127522265_127522268dup	GRCh37
NC_000005.8:g.127550164_127550167dup	NCBI36
NG_042286.1:g.107783_107786dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3581_3584dup MANE Select	ENSP00000262461.2:p.Pro1196ThrfsTer?
ENST00000262461.6:c.3581_3584dup	ENSP00000262461.2:p.Pro1196ThrfsTer?
ENST00000343225.4:c.3533_3536dup	ENSP00000340878.4:p.Pro1180ThrfsTer?
ENST00000509205.5:c.*194_*197dup	ENSP00000427109.1:n.*194_*197dup
NM_001046.2:c.3581_3584dup	NP_001037.1:p.Pro1196ThrfsTer?
NM_001256461.1:c.3533_3536dup	NP_001243390.1:p.Pro1180ThrfsTer?
NR_046207.1:n.3811_3814dup
XM_017009771.1:c.1823_1826dup	XP_016865260.1:p.Pro610ThrfsTer?
XR_001742214.1:n.3805_3808dup
NM_001046.3:c.3581_3584dup MANE Select	NP_001037.1:p.Pro1196ThrfsTer?
NM_001256461.2:c.3533_3536dup	NP_001243390.1:p.Pro1180ThrfsTer?
NR_046207.2:n.3836_3839dup