Canonical Allele Identifier: CA126981237

Gene: SLC12A2

Linked Data

• ClinVar Variation Id: 2976849
• ClinVar RCV Id: RCV003838983
• dbSNP Id: rs759479031
• gnomAD v2: 5-127522239-A-G
• gnomAD v3: 5-128186547-A-G
• gnomAD v4: 5-128186547-A-G
• MyVariant Identifiers: chr5:g.127522239A>G (hg19) ; chr5:g.128186547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186547A>G , CM000667.2:g.128186547A>G	GRCh38
NC_000005.9:g.127522239A>G , CM000667.1:g.127522239A>G	GRCh37
NC_000005.8:g.127550138A>G	NCBI36
NG_042286.1:g.107757A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3555A>G MANE Select	ENSP00000262461.2:p.Ala1185=
ENST00000262461.6:c.3555A>G	ENSP00000262461.2:p.Ala1185=
ENST00000343225.4:c.3507A>G	ENSP00000340878.4:p.Ala1169=
ENST00000509205.5:c.*168A>G	ENSP00000427109.1:n.*168A>G
NM_001046.2:c.3555A>G	NP_001037.1:p.Ala1185=
NM_001256461.1:c.3507A>G	NP_001243390.1:p.Ala1169=
NR_046207.1:n.3785A>G
XM_017009771.1:c.1797A>G	XP_016865260.1:p.Ala599=
XR_001742214.1:n.3779A>G
NM_001046.3:c.3555A>G MANE Select	NP_001037.1:p.Ala1185=
NM_001256461.2:c.3507A>G	NP_001243390.1:p.Ala1169=
NR_046207.2:n.3810A>G