Canonical Allele Identifier: CA3505506

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 728255
• ClinVar RCV Id: RCV001440802
• dbSNP Id: rs370460064
• ExAC: 5:149361010 G / A
• gnomAD v2: 5-149361010-G-A
• gnomAD v3: 5-149981447-G-A
• gnomAD v4: 5-149981447-G-A
• MyVariant Identifiers: chr5:g.149361010G>A (hg19) ; chr5:g.149981447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981447G>A , CM000667.2:g.149981447G>A	GRCh38
NC_000005.9:g.149361010G>A , CM000667.1:g.149361010G>A	GRCh37
NC_000005.8:g.149341203G>A	NCBI36
NG_007147.2:g.22565G>A , LRG_684:g.22565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1854G>A MANE Select	ENSP00000286298.4:p.Lys618=
ENST00000286298.4:c.1854G>A	ENSP00000286298.4:p.Lys618=
ENST00000503336.1:c.372+3096G>A	ENSP00000426053.1:n.372+3096G>A
NM_000112.3:c.1854G>A , LRG_684t1:c.1854G>A	NP_000103.2:p.Lys618=
XM_017009191.2:c.1854G>A	XP_016864680.1:p.Lys618=
NM_000112.4:c.1854G>A MANE Select	NP_000103.2:p.Lys618=