Canonical Allele Identifier: CA2578395461

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186715C>G , CM000667.2:g.128186715C>G	GRCh38
NC_000005.9:g.127522407C>G , CM000667.1:g.127522407C>G	GRCh37
NC_000005.8:g.127550306C>G	NCBI36
NG_042286.1:g.107925C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*84C>G MANE Select	ENSP00000262461.2:n.*84C>G
ENST00000262461.6:c.*84C>G	ENSP00000262461.2:n.*84C>G
ENST00000343225.4:c.*84C>G	ENSP00000340878.4:n.*84C>G
ENST00000509205.5:c.*336C>G	ENSP00000427109.1:n.*336C>G
NM_001046.2:c.*84C>G	NP_001037.1:n.*84C>G
NM_001256461.1:c.*84C>G	NP_001243390.1:n.*84C>G
NR_046207.1:n.3953C>G
XM_017009771.1:c.*84C>G	XP_016865260.1:n.*84C>G
XR_001742214.1:n.3947C>G
NM_001046.3:c.*84C>G MANE Select	NP_001037.1:n.*84C>G
NM_001256461.2:c.*84C>G	NP_001243390.1:n.*84C>G
NR_046207.2:n.3978C>G