Canonical Allele Identifier: CA447402661

Gene: SLC26A2

Linked Data

• dbSNP Id: rs1477246885
• gnomAD v4: 5-149981051-C-T
• MyVariant Identifiers: chr5:g.149360614C>T (hg19) ; chr5:g.149981051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981051C>T , CM000667.2:g.149981051C>T	GRCh38
NC_000005.9:g.149360614C>T , CM000667.1:g.149360614C>T	GRCh37
NC_000005.8:g.149340807C>T	NCBI36
NG_007147.2:g.22169C>T , LRG_684:g.22169C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000286298.5:c.1458C>T MANE Select	ENSP00000286298.4:p.Ile486=
ENST00000286298.4:c.1458C>T	ENSP00000286298.4:p.Ile486=
ENST00000503336.1:c.372+2700C>T	ENSP00000426053.1:n.372+2700C>T
NM_000112.3:c.1458C>T , LRG_684t1:c.1458C>T	NP_000103.2:p.Ile486=
XM_017009191.2:c.1458C>T	XP_016864680.1:p.Ile486=
NM_000112.4:c.1458C>T MANE Select	NP_000103.2:p.Ile486=