Canonical Allele Identifier: CA446302743

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186571-C-T
• MyVariant Identifiers: chr5:g.127522263C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186571C>T , CM000667.2:g.128186571C>T	GRCh38
NC_000005.9:g.127522263C>T , CM000667.1:g.127522263C>T	GRCh37
NC_000005.8:g.127550162C>T	NCBI36
NG_042286.1:g.107781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3579C>T MANE Select	ENSP00000262461.2:p.Asp1193=
ENST00000262461.6:c.3579C>T	ENSP00000262461.2:p.Asp1193=
ENST00000343225.4:c.3531C>T	ENSP00000340878.4:p.Asp1177=
ENST00000509205.5:c.*192C>T	ENSP00000427109.1:n.*192C>T
NM_001046.2:c.3579C>T	NP_001037.1:p.Asp1193=
NM_001256461.1:c.3531C>T	NP_001243390.1:p.Asp1177=
NR_046207.1:n.3809C>T
XM_017009771.1:c.1821C>T	XP_016865260.1:p.Asp607=
XR_001742214.1:n.3803C>T
NM_001046.3:c.3579C>T MANE Select	NP_001037.1:p.Asp1193=
NM_001256461.2:c.3531C>T	NP_001243390.1:p.Asp1177=
NR_046207.2:n.3834C>T