Canonical Allele Identifier: CA360743149

Gene: SLC12A2

Linked Data

• MyVariant Identifiers: chr5:g.127522265T>A (hg19) ; chr5:g.128186573T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186573T>A , CM000667.2:g.128186573T>A	GRCh38
NC_000005.9:g.127522265T>A , CM000667.1:g.127522265T>A	GRCh37
NC_000005.8:g.127550164T>A	NCBI36
NG_042286.1:g.107783T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3581T>A MANE Select	ENSP00000262461.2:p.Leu1194Gln
ENST00000262461.6:c.3581T>A	ENSP00000262461.2:p.Leu1194Gln
ENST00000343225.4:c.3533T>A	ENSP00000340878.4:p.Leu1178Gln
ENST00000509205.5:c.*194T>A	ENSP00000427109.1:n.*194T>A
NM_001046.2:c.3581T>A	NP_001037.1:p.Leu1194Gln
NM_001256461.1:c.3533T>A	NP_001243390.1:p.Leu1178Gln
NR_046207.1:n.3811T>A
XM_017009771.1:c.1823T>A	XP_016865260.1:p.Leu608Gln
XR_001742214.1:n.3805T>A
NM_001046.3:c.3581T>A MANE Select	NP_001037.1:p.Leu1194Gln
NM_001256461.2:c.3533T>A	NP_001243390.1:p.Leu1178Gln
NR_046207.2:n.3836T>A