Canonical Allele Identifier: CA360743097

Gene: SLC12A2

Linked Data

• COSMIC: COSM6469879
• MyVariant Identifiers: chr5:g.127522256C>A (hg19) ; chr5:g.128186564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186564C>A , CM000667.2:g.128186564C>A	GRCh38
NC_000005.9:g.127522256C>A , CM000667.1:g.127522256C>A	GRCh37
NC_000005.8:g.127550155C>A	NCBI36
NG_042286.1:g.107774C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3572C>A MANE Select	ENSP00000262461.2:p.Ser1191Tyr
ENST00000262461.6:c.3572C>A	ENSP00000262461.2:p.Ser1191Tyr
ENST00000343225.4:c.3524C>A	ENSP00000340878.4:p.Ser1175Tyr
ENST00000509205.5:c.*185C>A	ENSP00000427109.1:n.*185C>A
NM_001046.2:c.3572C>A	NP_001037.1:p.Ser1191Tyr
NM_001256461.1:c.3524C>A	NP_001243390.1:p.Ser1175Tyr
NR_046207.1:n.3802C>A
XM_017009771.1:c.1814C>A	XP_016865260.1:p.Ser605Tyr
XR_001742214.1:n.3796C>A
NM_001046.3:c.3572C>A MANE Select	NP_001037.1:p.Ser1191Tyr
NM_001256461.2:c.3524C>A	NP_001243390.1:p.Ser1175Tyr
NR_046207.2:n.3827C>A