Canonical Allele Identifier: CA3505542

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 255132
• ClinVar RCV Id: RCV000242222 ; RCV001154667 ; RCV001154669 ; RCV001154670 ; RCV001154671 ; RCV000898816 ; RCV001154668
• dbSNP Id: rs116657359
• ExAC: 5:149361202 G / A
• gnomAD v2: 5-149361202-G-A
• gnomAD v3: 5-149981639-G-A
• gnomAD v4: 5-149981639-G-A
• MyVariant Identifiers: chr5:g.149361202G>A (hg19) ; chr5:g.149981639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981639G>A , CM000667.2:g.149981639G>A	GRCh38
NC_000005.9:g.149361202G>A , CM000667.1:g.149361202G>A	GRCh37
NC_000005.8:g.149341395G>A	NCBI36
NG_007147.2:g.22757G>A , LRG_684:g.22757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.2046G>A MANE Select	ENSP00000286298.4:p.Leu682=
ENST00000286298.4:c.2046G>A	ENSP00000286298.4:p.Leu682=
ENST00000503336.1:c.372+3288G>A	ENSP00000426053.1:n.372+3288G>A
NM_000112.3:c.2046G>A , LRG_684t1:c.2046G>A	NP_000103.2:p.Leu682=
XM_017009191.2:c.2046G>A	XP_016864680.1:p.Leu682=
NM_000112.4:c.2046G>A MANE Select	NP_000103.2:p.Leu682=