Canonical Allele Identifier: CA361707442

Gene: SLC26A2

Linked Data

• dbSNP Id: rs1486535887
• gnomAD v3: 5-149980831-A-G
• gnomAD v4: 5-149980831-A-G
• MyVariant Identifiers: chr5:g.149360394A>G (hg19) ; chr5:g.149980831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980831A>G , CM000667.2:g.149980831A>G	GRCh38
NC_000005.9:g.149360394A>G , CM000667.1:g.149360394A>G	GRCh37
NC_000005.8:g.149340587A>G	NCBI36
NG_007147.2:g.21949A>G , LRG_684:g.21949A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286298.5:c.1238A>G MANE Select	ENSP00000286298.4:p.Lys413Arg
ENST00000286298.4:c.1238A>G	ENSP00000286298.4:p.Lys413Arg
ENST00000503336.1:c.372+2480A>G	ENSP00000426053.1:n.372+2480A>G
NM_000112.3:c.1238A>G , LRG_684t1:c.1238A>G	NP_000103.2:p.Lys413Arg
XM_017009191.2:c.1238A>G	XP_016864680.1:p.Lys413Arg
NM_000112.4:c.1238A>G MANE Select	NP_000103.2:p.Lys413Arg