Canonical Allele Identifier: CA2578395462

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186718A>T , CM000667.2:g.128186718A>T	GRCh38
NC_000005.9:g.127522410A>T , CM000667.1:g.127522410A>T	GRCh37
NC_000005.8:g.127550309A>T	NCBI36
NG_042286.1:g.107928A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*87A>T MANE Select	ENSP00000262461.2:n.*87A>T
ENST00000262461.6:c.*87A>T	ENSP00000262461.2:n.*87A>T
ENST00000343225.4:c.*87A>T	ENSP00000340878.4:n.*87A>T
ENST00000509205.5:c.*339A>T	ENSP00000427109.1:n.*339A>T
NM_001046.2:c.*87A>T	NP_001037.1:n.*87A>T
NM_001256461.1:c.*87A>T	NP_001243390.1:n.*87A>T
NR_046207.1:n.3956A>T
XM_017009771.1:c.*87A>T	XP_016865260.1:n.*87A>T
XR_001742214.1:n.3950A>T
NM_001046.3:c.*87A>T MANE Select	NP_001037.1:n.*87A>T
NM_001256461.2:c.*87A>T	NP_001243390.1:n.*87A>T
NR_046207.2:n.3981A>T