Canonical Allele Identifier: CA3393743

Gene: SLC12A2

Linked Data

• dbSNP Id: rs761150347
• ExAC: 5:127522306 C / T
• gnomAD v2: 5-127522306-C-T
• gnomAD v4: 5-128186614-C-T
• MyVariant Identifiers: chr5:g.127522306C>T (hg19) ; chr5:g.128186614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186614C>T , CM000667.2:g.128186614C>T	GRCh38
NC_000005.9:g.127522306C>T , CM000667.1:g.127522306C>T	GRCh37
NC_000005.8:g.127550205C>T	NCBI36
NG_042286.1:g.107824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3622C>T MANE Select	ENSP00000262461.2:p.Leu1208Phe
ENST00000262461.6:c.3622C>T	ENSP00000262461.2:p.Leu1208Phe
ENST00000343225.4:c.3574C>T	ENSP00000340878.4:p.Leu1192Phe
ENST00000509205.5:c.*235C>T	ENSP00000427109.1:n.*235C>T
NM_001046.2:c.3622C>T	NP_001037.1:p.Leu1208Phe
NM_001256461.1:c.3574C>T	NP_001243390.1:p.Leu1192Phe
NR_046207.1:n.3852C>T
XM_017009771.1:c.1864C>T	XP_016865260.1:p.Leu622Phe
XR_001742214.1:n.3846C>T
NM_001046.3:c.3622C>T MANE Select	NP_001037.1:p.Leu1208Phe
NM_001256461.2:c.3574C>T	NP_001243390.1:p.Leu1192Phe
NR_046207.2:n.3877C>T