Canonical Allele Identifier: CA562709726

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1380998227
• gnomAD v2: 5-127522428-T-C
• gnomAD v3: 5-128186736-T-C
• gnomAD v4: 5-128186736-T-C
• MyVariant Identifiers: chr5:g.127522428T>C (hg19) ; chr5:g.128186736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186736T>C , CM000667.2:g.128186736T>C	GRCh38
NC_000005.9:g.127522428T>C , CM000667.1:g.127522428T>C	GRCh37
NC_000005.8:g.127550327T>C	NCBI36
NG_042286.1:g.107946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*105T>C MANE Select	ENSP00000262461.2:n.*105T>C
ENST00000262461.6:c.*105T>C	ENSP00000262461.2:n.*105T>C
ENST00000343225.4:c.*105T>C	ENSP00000340878.4:n.*105T>C
ENST00000509205.5:c.*357T>C	ENSP00000427109.1:n.*357T>C
NM_001046.2:c.*105T>C	NP_001037.1:n.*105T>C
NM_001256461.1:c.*105T>C	NP_001243390.1:n.*105T>C
NR_046207.1:n.3974T>C
XM_017009771.1:c.*105T>C	XP_016865260.1:n.*105T>C
XR_001742214.1:n.3968T>C
NM_001046.3:c.*105T>C MANE Select	NP_001037.1:n.*105T>C
NM_001256461.2:c.*105T>C	NP_001243390.1:n.*105T>C
NR_046207.2:n.3999T>C