Canonical Allele Identifier: CA3393740

Gene: SLC12A2

Linked Data

• ClinVar Variation Id: 1626001
• ClinVar RCV Id: RCV002110449
• dbSNP Id: rs766549802
• ExAC: 5:127522254 A / G
• gnomAD v2: 5-127522254-A-G
• gnomAD v3: 5-128186562-A-G
• gnomAD v4: 5-128186562-A-G
• MyVariant Identifiers: chr5:g.127522254A>G (hg19) ; chr5:g.128186562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186562A>G , CM000667.2:g.128186562A>G	GRCh38
NC_000005.9:g.127522254A>G , CM000667.1:g.127522254A>G	GRCh37
NC_000005.8:g.127550153A>G	NCBI36
NG_042286.1:g.107772A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3570A>G MANE Select	ENSP00000262461.2:p.Leu1190=
ENST00000262461.6:c.3570A>G	ENSP00000262461.2:p.Leu1190=
ENST00000343225.4:c.3522A>G	ENSP00000340878.4:p.Leu1174=
ENST00000509205.5:c.*183A>G	ENSP00000427109.1:n.*183A>G
NM_001046.2:c.3570A>G	NP_001037.1:p.Leu1190=
NM_001256461.1:c.3522A>G	NP_001243390.1:p.Leu1174=
NR_046207.1:n.3800A>G
XM_017009771.1:c.1812A>G	XP_016865260.1:p.Leu604=
XR_001742214.1:n.3794A>G
NM_001046.3:c.3570A>G MANE Select	NP_001037.1:p.Leu1190=
NM_001256461.2:c.3522A>G	NP_001243390.1:p.Leu1174=
NR_046207.2:n.3825A>G