Canonical Allele Identifier: CA360743210

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186585-T-C
• MyVariant Identifiers: chr5:g.127522277T>C (hg19) ; chr5:g.128186585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186585T>C , CM000667.2:g.128186585T>C	GRCh38
NC_000005.9:g.127522277T>C , CM000667.1:g.127522277T>C	GRCh37
NC_000005.8:g.127550176T>C	NCBI36
NG_042286.1:g.107795T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3593T>C MANE Select	ENSP00000262461.2:p.Leu1198Pro
ENST00000262461.6:c.3593T>C	ENSP00000262461.2:p.Leu1198Pro
ENST00000343225.4:c.3545T>C	ENSP00000340878.4:p.Leu1182Pro
ENST00000509205.5:c.*206T>C	ENSP00000427109.1:n.*206T>C
NM_001046.2:c.3593T>C	NP_001037.1:p.Leu1198Pro
NM_001256461.1:c.3545T>C	NP_001243390.1:p.Leu1182Pro
NR_046207.1:n.3823T>C
XM_017009771.1:c.1835T>C	XP_016865260.1:p.Leu612Pro
XR_001742214.1:n.3817T>C
NM_001046.3:c.3593T>C MANE Select	NP_001037.1:p.Leu1198Pro
NM_001256461.2:c.3545T>C	NP_001243390.1:p.Leu1182Pro
NR_046207.2:n.3848T>C