Canonical Allele Identifier: CA360743318

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1763878178
• gnomAD v3: 5-128186608-A-C
• gnomAD v4: 5-128186608-A-C
• MyVariant Identifiers: chr5:g.127522300A>C (hg19) ; chr5:g.128186608A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186608A>C , CM000667.2:g.128186608A>C	GRCh38
NC_000005.9:g.127522300A>C , CM000667.1:g.127522300A>C	GRCh37
NC_000005.8:g.127550199A>C	NCBI36
NG_042286.1:g.107818A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3616A>C MANE Select	ENSP00000262461.2:p.Ser1206Arg
ENST00000262461.6:c.3616A>C	ENSP00000262461.2:p.Ser1206Arg
ENST00000343225.4:c.3568A>C	ENSP00000340878.4:p.Ser1190Arg
ENST00000509205.5:c.*229A>C	ENSP00000427109.1:n.*229A>C
NM_001046.2:c.3616A>C	NP_001037.1:p.Ser1206Arg
NM_001256461.1:c.3568A>C	NP_001243390.1:p.Ser1190Arg
NR_046207.1:n.3846A>C
XM_017009771.1:c.1858A>C	XP_016865260.1:p.Ser620Arg
XR_001742214.1:n.3840A>C
NM_001046.3:c.3616A>C MANE Select	NP_001037.1:p.Ser1206Arg
NM_001256461.2:c.3568A>C	NP_001243390.1:p.Ser1190Arg
NR_046207.2:n.3871A>C