Canonical Allele Identifier: CA360743183

Gene: SLC12A2

Linked Data

• MyVariant Identifiers: chr5:g.127522273A>T (hg19) ; chr5:g.128186581A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186581A>T , CM000667.2:g.128186581A>T	GRCh38
NC_000005.9:g.127522273A>T , CM000667.1:g.127522273A>T	GRCh37
NC_000005.8:g.127550172A>T	NCBI36
NG_042286.1:g.107791A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3589A>T MANE Select	ENSP00000262461.2:p.Ile1197Phe
ENST00000262461.6:c.3589A>T	ENSP00000262461.2:p.Ile1197Phe
ENST00000343225.4:c.3541A>T	ENSP00000340878.4:p.Ile1181Phe
ENST00000509205.5:c.*202A>T	ENSP00000427109.1:n.*202A>T
NM_001046.2:c.3589A>T	NP_001037.1:p.Ile1197Phe
NM_001256461.1:c.3541A>T	NP_001243390.1:p.Ile1181Phe
NR_046207.1:n.3819A>T
XM_017009771.1:c.1831A>T	XP_016865260.1:p.Ile611Phe
XR_001742214.1:n.3813A>T
NM_001046.3:c.3589A>T MANE Select	NP_001037.1:p.Ile1197Phe
NM_001256461.2:c.3541A>T	NP_001243390.1:p.Ile1181Phe
NR_046207.2:n.3844A>T