Canonical Allele Identifier: CA361706096

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 905610
• ClinVar RCV Id: RCV001154240 ; RCV001154236 ; RCV001154237 ; RCV001154238 ; RCV001154239
• dbSNP Id: rs1228615816
• gnomAD v2: 5-149359866-G-T
• gnomAD v4: 5-149980303-G-T
• MyVariant Identifiers: chr5:g.149359866G>T (hg19) ; chr5:g.149980303G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980303G>T , CM000667.2:g.149980303G>T	GRCh38
NC_000005.9:g.149359866G>T , CM000667.1:g.149359866G>T	GRCh37
NC_000005.8:g.149340059G>T	NCBI36
NG_007147.2:g.21421G>T , LRG_684:g.21421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.710G>T MANE Select	ENSP00000286298.4:p.Gly237Val
ENST00000286298.4:c.710G>T	ENSP00000286298.4:p.Gly237Val
ENST00000503336.1:c.372+1952G>T	ENSP00000426053.1:n.372+1952G>T
NM_000112.3:c.710G>T , LRG_684t1:c.710G>T	NP_000103.2:p.Gly237Val
XM_017009191.2:c.710G>T	XP_016864680.1:p.Gly237Val
NM_000112.4:c.710G>T MANE Select	NP_000103.2:p.Gly237Val