Canonical Allele Identifier: CA3393739

Gene: SLC12A2

Linked Data

• dbSNP Id: rs774219347
• ExAC: 5:127522252 C / T
• gnomAD v2: 5-127522252-C-T
• gnomAD v3: 5-128186560-C-T
• gnomAD v4: 5-128186560-C-T
• MyVariant Identifiers: chr5:g.127522252C>T (hg19) ; chr5:g.128186560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186560C>T , CM000667.2:g.128186560C>T	GRCh38
NC_000005.9:g.127522252C>T , CM000667.1:g.127522252C>T	GRCh37
NC_000005.8:g.127550151C>T	NCBI36
NG_042286.1:g.107770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3568C>T MANE Select	ENSP00000262461.2:p.Leu1190=
ENST00000262461.6:c.3568C>T	ENSP00000262461.2:p.Leu1190=
ENST00000343225.4:c.3520C>T	ENSP00000340878.4:p.Leu1174=
ENST00000509205.5:c.*181C>T	ENSP00000427109.1:n.*181C>T
NM_001046.2:c.3568C>T	NP_001037.1:p.Leu1190=
NM_001256461.1:c.3520C>T	NP_001243390.1:p.Leu1174=
NR_046207.1:n.3798C>T
XM_017009771.1:c.1810C>T	XP_016865260.1:p.Leu604=
XR_001742214.1:n.3792C>T
NM_001046.3:c.3568C>T MANE Select	NP_001037.1:p.Leu1190=
NM_001256461.2:c.3520C>T	NP_001243390.1:p.Leu1174=
NR_046207.2:n.3823C>T