Canonical Allele Identifier: CA446302744

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1270075192
• gnomAD v2: 5-127522264-C-T
• gnomAD v4: 5-128186572-C-T
• MyVariant Identifiers: chr5:g.127522264C>T (hg19) ; chr5:g.128186572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186572C>T , CM000667.2:g.128186572C>T	GRCh38
NC_000005.9:g.127522264C>T , CM000667.1:g.127522264C>T	GRCh37
NC_000005.8:g.127550163C>T	NCBI36
NG_042286.1:g.107782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3580C>T MANE Select	ENSP00000262461.2:p.Leu1194=
ENST00000262461.6:c.3580C>T	ENSP00000262461.2:p.Leu1194=
ENST00000343225.4:c.3532C>T	ENSP00000340878.4:p.Leu1178=
ENST00000509205.5:c.*193C>T	ENSP00000427109.1:n.*193C>T
NM_001046.2:c.3580C>T	NP_001037.1:p.Leu1194=
NM_001256461.1:c.3532C>T	NP_001243390.1:p.Leu1178=
NR_046207.1:n.3810C>T
XM_017009771.1:c.1822C>T	XP_016865260.1:p.Leu608=
XR_001742214.1:n.3804C>T
NM_001046.3:c.3580C>T MANE Select	NP_001037.1:p.Leu1194=
NM_001256461.2:c.3532C>T	NP_001243390.1:p.Leu1178=
NR_046207.2:n.3835C>T