Canonical Allele Identifier: CA126981310

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1044554504
• gnomAD v3: 5-128186700-A-G
• gnomAD v4: 5-128186700-A-G
• MyVariant Identifiers: chr5:g.127522392A>G (hg19) ; chr5:g.128186700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186700A>G , CM000667.2:g.128186700A>G	GRCh38
NC_000005.9:g.127522392A>G , CM000667.1:g.127522392A>G	GRCh37
NC_000005.8:g.127550291A>G	NCBI36
NG_042286.1:g.107910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*69A>G MANE Select	ENSP00000262461.2:n.*69A>G
ENST00000262461.6:c.*69A>G	ENSP00000262461.2:n.*69A>G
ENST00000343225.4:c.*69A>G	ENSP00000340878.4:n.*69A>G
ENST00000509205.5:c.*321A>G	ENSP00000427109.1:n.*321A>G
NM_001046.2:c.*69A>G	NP_001037.1:n.*69A>G
NM_001256461.1:c.*69A>G	NP_001243390.1:n.*69A>G
NR_046207.1:n.3938A>G
XM_017009771.1:c.*69A>G	XP_016865260.1:n.*69A>G
XR_001742214.1:n.3932A>G
NM_001046.3:c.*69A>G MANE Select	NP_001037.1:n.*69A>G
NM_001256461.2:c.*69A>G	NP_001243390.1:n.*69A>G
NR_046207.2:n.3963A>G