Canonical Allele Identifier: CA2675109988

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186587-CTAGTTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186589_128186595del , CM000667.2:g.128186589_128186595del	GRCh38
NC_000005.9:g.127522281_127522287del , CM000667.1:g.127522281_127522287del	GRCh37
NC_000005.8:g.127550180_127550186del	NCBI36
NG_042286.1:g.107799_107805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3597_3603del MANE Select	ENSP00000262461.2:p.Val1200GlyfsTer?
ENST00000262461.6:c.3597_3603del	ENSP00000262461.2:p.Val1200GlyfsTer?
ENST00000343225.4:c.3549_3555del	ENSP00000340878.4:p.Val1184GlyfsTer?
ENST00000509205.5:c.*210_*216del	ENSP00000427109.1:n.*210_*216del
NM_001046.2:c.3597_3603del	NP_001037.1:p.Val1200GlyfsTer?
NM_001256461.1:c.3549_3555del	NP_001243390.1:p.Val1184GlyfsTer?
NR_046207.1:n.3827_3833del
XM_017009771.1:c.1839_1845del	XP_016865260.1:p.Val614GlyfsTer?
XR_001742214.1:n.3821_3827del
NM_001046.3:c.3597_3603del MANE Select	NP_001037.1:p.Val1200GlyfsTer?
NM_001256461.2:c.3549_3555del	NP_001243390.1:p.Val1184GlyfsTer?
NR_046207.2:n.3852_3858del