Canonical Allele Identifier: CA1081346835

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128084239_128084265dup , CM000667.2:g.128084239_128084265dup	GRCh38
NC_000005.9:g.127419931_127419957dup , CM000667.1:g.127419931_127419957dup	GRCh37
NC_000005.8:g.127447830_127447856dup	NCBI36
NG_042286.1:g.5449_5475dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001046.3:c.285_311dup MANE Select	NP_001037.1:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaAla
ENST00000262461.7:c.285_311dup MANE Select	ENSP00000262461.2:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001046.2:c.285_311dup	NP_001037.1:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001256461.1:c.285_311dup	NP_001243390.1:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001256461.2:c.285_311dup	NP_001243390.1:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaAla
NR_046207.1:n.449_475dup
NR_046207.2:n.474_500dup
ENST00000262461.6:c.285_311dup	ENSP00000262461.2:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000343225.4:c.285_311dup	ENSP00000340878.4:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000509205.5:c.285_311dup	ENSP00000427109.1:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000628403.2:c.285_311dup	ENSP00000486323.1:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaA...
XM_011543588.1:c.285_311dup	XP_011541890.1:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaAla
XM_011543588.2:c.285_311dup	XP_011541890.1:p.Ala104_Ala105insAlaAlaAlaAlaAlaAlaAlaAlaAla
XR_001742214.1:n.443_469dup