Canonical Allele Identifier: CA446302757

Gene: SLC12A2

Linked Data

• dbSNP Id: rs998178899
• gnomAD v2: 5-127522278-C-G
• gnomAD v4: 5-128186586-C-G
• MyVariant Identifiers: chr5:g.127522278C>G (hg19) ; chr5:g.128186586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186586C>G , CM000667.2:g.128186586C>G	GRCh38
NC_000005.9:g.127522278C>G , CM000667.1:g.127522278C>G	GRCh37
NC_000005.8:g.127550177C>G	NCBI36
NG_042286.1:g.107796C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3594C>G MANE Select	ENSP00000262461.2:p.Leu1198=
ENST00000262461.6:c.3594C>G	ENSP00000262461.2:p.Leu1198=
ENST00000343225.4:c.3546C>G	ENSP00000340878.4:p.Leu1182=
ENST00000509205.5:c.*207C>G	ENSP00000427109.1:n.*207C>G
NM_001046.2:c.3594C>G	NP_001037.1:p.Leu1198=
NM_001256461.1:c.3546C>G	NP_001243390.1:p.Leu1182=
NR_046207.1:n.3824C>G
XM_017009771.1:c.1836C>G	XP_016865260.1:p.Leu612=
XR_001742214.1:n.3818C>G
NM_001046.3:c.3594C>G MANE Select	NP_001037.1:p.Leu1198=
NM_001256461.2:c.3546C>G	NP_001243390.1:p.Leu1182=
NR_046207.2:n.3849C>G