Canonical Allele Identifier: CA360743203

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186584-C-G
• MyVariant Identifiers: chr5:g.127522276C>G (hg19) ; chr5:g.128186584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186584C>G , CM000667.2:g.128186584C>G	GRCh38
NC_000005.9:g.127522276C>G , CM000667.1:g.127522276C>G	GRCh37
NC_000005.8:g.127550175C>G	NCBI36
NG_042286.1:g.107794C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3592C>G MANE Select	ENSP00000262461.2:p.Leu1198Val
ENST00000262461.6:c.3592C>G	ENSP00000262461.2:p.Leu1198Val
ENST00000343225.4:c.3544C>G	ENSP00000340878.4:p.Leu1182Val
ENST00000509205.5:c.*205C>G	ENSP00000427109.1:n.*205C>G
NM_001046.2:c.3592C>G	NP_001037.1:p.Leu1198Val
NM_001256461.1:c.3544C>G	NP_001243390.1:p.Leu1182Val
NR_046207.1:n.3822C>G
XM_017009771.1:c.1834C>G	XP_016865260.1:p.Leu612Val
XR_001742214.1:n.3816C>G
NM_001046.3:c.3592C>G MANE Select	NP_001037.1:p.Leu1198Val
NM_001256461.2:c.3544C>G	NP_001243390.1:p.Leu1182Val
NR_046207.2:n.3847C>G