Canonical Allele Identifier: CA803610311

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1420980396
• gnomAD v3: 5-128186654-C-T
• gnomAD v4: 5-128186654-C-T
• MyVariant Identifiers: chr5:g.127522346C>T (hg19) ; chr5:g.128186654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186654C>T , CM000667.2:g.128186654C>T	GRCh38
NC_000005.9:g.127522346C>T , CM000667.1:g.127522346C>T	GRCh37
NC_000005.8:g.127550245C>T	NCBI36
NG_042286.1:g.107864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*23C>T MANE Select	ENSP00000262461.2:n.*23C>T
ENST00000262461.6:c.*23C>T	ENSP00000262461.2:n.*23C>T
ENST00000343225.4:c.*23C>T	ENSP00000340878.4:n.*23C>T
ENST00000509205.5:c.*275C>T	ENSP00000427109.1:n.*275C>T
NM_001046.2:c.*23C>T	NP_001037.1:n.*23C>T
NM_001256461.1:c.*23C>T	NP_001243390.1:n.*23C>T
NR_046207.1:n.3892C>T
XM_017009771.1:c.*23C>T	XP_016865260.1:n.*23C>T
XR_001742214.1:n.3886C>T
NM_001046.3:c.*23C>T MANE Select	NP_001037.1:n.*23C>T
NM_001256461.2:c.*23C>T	NP_001243390.1:n.*23C>T
NR_046207.2:n.3917C>T