Canonical Allele Identifier: CA3505363

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352024
• ClinVar RCV Id: RCV000282962 ; RCV000287065 ; RCV000321645 ; RCV000335056 ; RCV000379231 ; RCV002520336
• dbSNP Id: rs772104667
• ExAC: 5:149360149 A / C
• gnomAD v2: 5-149360149-A-C
• gnomAD v3: 5-149980586-A-C
• gnomAD v4: 5-149980586-A-C
• MyVariant Identifiers: chr5:g.149360149A>C (hg19) ; chr5:g.149980586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980586A>C , CM000667.2:g.149980586A>C	GRCh38
NC_000005.9:g.149360149A>C , CM000667.1:g.149360149A>C	GRCh37
NC_000005.8:g.149340342A>C	NCBI36
NG_007147.2:g.21704A>C , LRG_684:g.21704A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.993A>C MANE Select	ENSP00000286298.4:p.Ala331=
ENST00000286298.4:c.993A>C	ENSP00000286298.4:p.Ala331=
ENST00000503336.1:c.372+2235A>C	ENSP00000426053.1:n.372+2235A>C
NM_000112.3:c.993A>C , LRG_684t1:c.993A>C	NP_000103.2:p.Ala331=
XM_017009191.2:c.993A>C	XP_016864680.1:p.Ala331=
NM_000112.4:c.993A>C MANE Select	NP_000103.2:p.Ala331=