Canonical Allele Identifier: CA562709680

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1159052011
• gnomAD v2: 5-127522291-AATC-A
• gnomAD v4: 5-128186599-AATC-A
• MyVariant Identifiers: chr5:g.127522292_127522294del (hg19) ; chr5:g.128186600_128186602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186604_128186606del , CM000667.2:g.128186604_128186606del	GRCh38
NC_000005.9:g.127522296_127522298del , CM000667.1:g.127522296_127522298del	GRCh37
NC_000005.8:g.127550195_127550197del	NCBI36
NG_042286.1:g.107814_107816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3612_3614del MANE Select	ENSP00000262461.2:p.His1204del
ENST00000262461.6:c.3612_3614del	ENSP00000262461.2:p.His1204del
ENST00000343225.4:c.3564_3566del	ENSP00000340878.4:p.His1188del
ENST00000509205.5:c.*225_*227del	ENSP00000427109.1:n.*225_*227del
NM_001046.2:c.3612_3614del	NP_001037.1:p.His1204del
NM_001256461.1:c.3564_3566del	NP_001243390.1:p.His1188del
NR_046207.1:n.3842_3844del
XM_017009771.1:c.1854_1856del	XP_016865260.1:p.His618del
XR_001742214.1:n.3836_3838del
NM_001046.3:c.3612_3614del MANE Select	NP_001037.1:p.His1204del
NM_001256461.2:c.3564_3566del	NP_001243390.1:p.His1188del
NR_046207.2:n.3867_3869del