Canonical Allele Identifier: CA3393750

Gene: SLC12A2

Linked Data

• dbSNP Id: rs781122726
• ExAC: 5:127522371 G / A
• gnomAD v2: 5-127522371-G-A
• gnomAD v4: 5-128186679-G-A
• MyVariant Identifiers: chr5:g.127522371G>A (hg19) ; chr5:g.128186679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186679G>A , CM000667.2:g.128186679G>A	GRCh38
NC_000005.9:g.127522371G>A , CM000667.1:g.127522371G>A	GRCh37
NC_000005.8:g.127550270G>A	NCBI36
NG_042286.1:g.107889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*48G>A MANE Select	ENSP00000262461.2:n.*48G>A
ENST00000262461.6:c.*48G>A	ENSP00000262461.2:n.*48G>A
ENST00000343225.4:c.*48G>A	ENSP00000340878.4:n.*48G>A
ENST00000509205.5:c.*300G>A	ENSP00000427109.1:n.*300G>A
NM_001046.2:c.*48G>A	NP_001037.1:n.*48G>A
NM_001256461.1:c.*48G>A	NP_001243390.1:n.*48G>A
NR_046207.1:n.3917G>A
XM_017009771.1:c.*48G>A	XP_016865260.1:n.*48G>A
XR_001742214.1:n.3911G>A
NM_001046.3:c.*48G>A MANE Select	NP_001037.1:n.*48G>A
NM_001256461.2:c.*48G>A	NP_001243390.1:n.*48G>A
NR_046207.2:n.3942G>A