Canonical Allele Identifier: CA126981275

Gene: SLC12A2

Linked Data

• dbSNP Id: rs775729974
• MyVariant Identifiers: chr5:g.127522334C>G (hg19) ; chr5:g.128186642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186642C>G , CM000667.2:g.128186642C>G	GRCh38
NC_000005.9:g.127522334C>G , CM000667.1:g.127522334C>G	GRCh37
NC_000005.8:g.127550233C>G	NCBI36
NG_042286.1:g.107852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*11C>G MANE Select	ENSP00000262461.2:n.*11C>G
ENST00000262461.6:c.*11C>G	ENSP00000262461.2:n.*11C>G
ENST00000343225.4:c.*11C>G	ENSP00000340878.4:n.*11C>G
ENST00000509205.5:c.*263C>G	ENSP00000427109.1:n.*263C>G
NM_001046.2:c.*11C>G	NP_001037.1:n.*11C>G
NM_001256461.1:c.*11C>G	NP_001243390.1:n.*11C>G
NR_046207.1:n.3880C>G
XM_017009771.1:c.*11C>G	XP_016865260.1:n.*11C>G
XR_001742214.1:n.3874C>G
NM_001046.3:c.*11C>G MANE Select	NP_001037.1:n.*11C>G
NM_001256461.2:c.*11C>G	NP_001243390.1:n.*11C>G
NR_046207.2:n.3905C>G