Canonical Allele Identifier: CA126981319

Gene: SLC12A2

Linked Data

• dbSNP Id: rs904759620
• gnomAD v2: 5-127522399-A-G
• gnomAD v3: 5-128186707-A-G
• gnomAD v4: 5-128186707-A-G
• MyVariant Identifiers: chr5:g.127522399A>G (hg19) ; chr5:g.128186707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186707A>G , CM000667.2:g.128186707A>G	GRCh38
NC_000005.9:g.127522399A>G , CM000667.1:g.127522399A>G	GRCh37
NC_000005.8:g.127550298A>G	NCBI36
NG_042286.1:g.107917A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*76A>G MANE Select	ENSP00000262461.2:n.*76A>G
ENST00000262461.6:c.*76A>G	ENSP00000262461.2:n.*76A>G
ENST00000343225.4:c.*76A>G	ENSP00000340878.4:n.*76A>G
ENST00000509205.5:c.*328A>G	ENSP00000427109.1:n.*328A>G
NM_001046.2:c.*76A>G	NP_001037.1:n.*76A>G
NM_001256461.1:c.*76A>G	NP_001243390.1:n.*76A>G
NR_046207.1:n.3945A>G
XM_017009771.1:c.*76A>G	XP_016865260.1:n.*76A>G
XR_001742214.1:n.3939A>G
NM_001046.3:c.*76A>G MANE Select	NP_001037.1:n.*76A>G
NM_001256461.2:c.*76A>G	NP_001243390.1:n.*76A>G
NR_046207.2:n.3970A>G