Canonical Allele Identifier: CA360743110

Gene: SLC12A2

Linked Data

• MyVariant Identifiers: chr5:g.127522259A>T (hg19) ; chr5:g.128186567A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186567A>T , CM000667.2:g.128186567A>T	GRCh38
NC_000005.9:g.127522259A>T , CM000667.1:g.127522259A>T	GRCh37
NC_000005.8:g.127550158A>T	NCBI36
NG_042286.1:g.107777A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3575A>T MANE Select	ENSP00000262461.2:p.Lys1192Met
ENST00000262461.6:c.3575A>T	ENSP00000262461.2:p.Lys1192Met
ENST00000343225.4:c.3527A>T	ENSP00000340878.4:p.Lys1176Met
ENST00000509205.5:c.*188A>T	ENSP00000427109.1:n.*188A>T
NM_001046.2:c.3575A>T	NP_001037.1:p.Lys1192Met
NM_001256461.1:c.3527A>T	NP_001243390.1:p.Lys1176Met
NR_046207.1:n.3805A>T
XM_017009771.1:c.1817A>T	XP_016865260.1:p.Lys606Met
XR_001742214.1:n.3799A>T
NM_001046.3:c.3575A>T MANE Select	NP_001037.1:p.Lys1192Met
NM_001256461.2:c.3527A>T	NP_001243390.1:p.Lys1176Met
NR_046207.2:n.3830A>T