Canonical Allele Identifier: CA1581197553

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186558_128186562delinsCTCTA , CM000667.2:g.128186558_128186562delinsCTCTA	GRCh38
NC_000005.9:g.127522250_127522254delinsCTCTA , CM000667.1:g.127522250_127522254delinsCTCTA	GRCh37
NC_000005.8:g.127550149_127550153delinsCTCTA	NCBI36
NG_042286.1:g.107768_107772delinsCTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3566_3570delinsCTCTA MANE Select	ENSP00000262461.2:p.Ala1189=
ENST00000262461.6:c.3566_3570delinsCTCTA	ENSP00000262461.2:p.Ala1189=
ENST00000343225.4:c.3518_3522delinsCTCTA	ENSP00000340878.4:p.Ala1173=
ENST00000509205.5:c.*179_*183delinsCTCTA	ENSP00000427109.1:n.*179_*183delinsCTCTA
NM_001046.2:c.3566_3570delinsCTCTA	NP_001037.1:p.Ala1189=
NM_001256461.1:c.3518_3522delinsCTCTA	NP_001243390.1:p.Ala1173=
NR_046207.1:n.3796_3800delinsCTCTA
XM_017009771.1:c.1808_1812delinsCTCTA	XP_016865260.1:p.Ala603=
XR_001742214.1:n.3790_3794delinsCTCTA
NM_001046.3:c.3566_3570delinsCTCTA MANE Select	NP_001037.1:p.Ala1189=
NM_001256461.2:c.3518_3522delinsCTCTA	NP_001243390.1:p.Ala1173=
NR_046207.2:n.3821_3825delinsCTCTA