Canonical Allele Identifier: CA3505262

Gene: SLC26A2

Linked Data

• dbSNP Id: rs763859822
• ExAC: 5:149357703 G / A
• gnomAD v2: 5-149357703-G-A
• MyVariant Identifiers: chr5:g.149357703G>A (hg19) ; chr5:g.149978140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149978140G>A , CM000667.2:g.149978140G>A	GRCh38
NC_000005.9:g.149357703G>A , CM000667.1:g.149357703G>A	GRCh37
NC_000005.8:g.149337896G>A	NCBI36
NG_007147.2:g.19258G>A , LRG_684:g.19258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.720G>A
ENST00000286298.5:c.488G>A MANE Select	ENSP00000286298.4:p.Gly163Asp
ENST00000286298.4:c.488G>A	ENSP00000286298.4:p.Gly163Asp
ENST00000503336.1:c.161G>A	ENSP00000426053.1:p.Gly54Asp
NM_000112.3:c.488G>A , LRG_684t1:c.488G>A	NP_000103.2:p.Gly163Asp
XM_017009191.2:c.488G>A	XP_016864680.1:p.Gly163Asp
NM_000112.4:c.488G>A MANE Select	NP_000103.2:p.Gly163Asp