Canonical Allele Identifier: CA360743277

Gene: SLC12A2

Linked Data

• MyVariant Identifiers: chr5:g.127522292A>T (hg19) ; chr5:g.128186600A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186600A>T , CM000667.2:g.128186600A>T	GRCh38
NC_000005.9:g.127522292A>T , CM000667.1:g.127522292A>T	GRCh37
NC_000005.8:g.127550191A>T	NCBI36
NG_042286.1:g.107810A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3608A>T MANE Select	ENSP00000262461.2:p.Asn1203Ile
ENST00000262461.6:c.3608A>T	ENSP00000262461.2:p.Asn1203Ile
ENST00000343225.4:c.3560A>T	ENSP00000340878.4:p.Asn1187Ile
ENST00000509205.5:c.*221A>T	ENSP00000427109.1:n.*221A>T
NM_001046.2:c.3608A>T	NP_001037.1:p.Asn1203Ile
NM_001256461.1:c.3560A>T	NP_001243390.1:p.Asn1187Ile
NR_046207.1:n.3838A>T
XM_017009771.1:c.1850A>T	XP_016865260.1:p.Asn617Ile
XR_001742214.1:n.3832A>T
NM_001046.3:c.3608A>T MANE Select	NP_001037.1:p.Asn1203Ile
NM_001256461.2:c.3560A>T	NP_001243390.1:p.Asn1187Ile
NR_046207.2:n.3863A>T