Canonical Allele Identifier: CA1581197607

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186599_128186602delinsAATC , CM000667.2:g.128186599_128186602delinsAATC	GRCh38
NC_000005.9:g.127522291_127522294delinsAATC , CM000667.1:g.127522291_127522294delinsAATC	GRCh37
NC_000005.8:g.127550190_127550193delinsAATC	NCBI36
NG_042286.1:g.107809_107812delinsAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3607_3610delinsAATC MANE Select	ENSP00000262461.2:p.Asn1203=
ENST00000262461.6:c.3607_3610delinsAATC	ENSP00000262461.2:p.Asn1203=
ENST00000343225.4:c.3559_3562delinsAATC	ENSP00000340878.4:p.Asn1187=
ENST00000509205.5:c.*220_*223delinsAATC	ENSP00000427109.1:n.*220_*223delinsAATC
NM_001046.2:c.3607_3610delinsAATC	NP_001037.1:p.Asn1203=
NM_001256461.1:c.3559_3562delinsAATC	NP_001243390.1:p.Asn1187=
NR_046207.1:n.3837_3840delinsAATC
XM_017009771.1:c.1849_1852delinsAATC	XP_016865260.1:p.Asn617=
XR_001742214.1:n.3831_3834delinsAATC
NM_001046.3:c.3607_3610delinsAATC MANE Select	NP_001037.1:p.Asn1203=
NM_001256461.2:c.3559_3562delinsAATC	NP_001243390.1:p.Asn1187=
NR_046207.2:n.3862_3865delinsAATC