Canonical Allele Identifier: CA2675109995

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186656-CCAGAATGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186657_128186664del , CM000667.2:g.128186657_128186664del	GRCh38
NC_000005.9:g.127522349_127522356del , CM000667.1:g.127522349_127522356del	GRCh37
NC_000005.8:g.127550248_127550255del	NCBI36
NG_042286.1:g.107867_107874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*26_*33del MANE Select	ENSP00000262461.2:n.*26_*33del
ENST00000262461.6:c.*26_*33del	ENSP00000262461.2:n.*26_*33del
ENST00000343225.4:c.*26_*33del	ENSP00000340878.4:n.*26_*33del
ENST00000509205.5:c.*278_*285del	ENSP00000427109.1:n.*278_*285del
NM_001046.2:c.*26_*33del	NP_001037.1:n.*26_*33del
NM_001256461.1:c.*26_*33del	NP_001243390.1:n.*26_*33del
NR_046207.1:n.3895_3902del
XM_017009771.1:c.*26_*33del	XP_016865260.1:n.*26_*33del
XR_001742214.1:n.3889_3896del
NM_001046.3:c.*26_*33del MANE Select	NP_001037.1:n.*26_*33del
NM_001256461.2:c.*26_*33del	NP_001243390.1:n.*26_*33del
NR_046207.2:n.3920_3927del