Canonical Allele Identifier: CA447402929
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1561823449
MyVariant Identifiers: chr5:g.149361067G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981504G>A , CM000667.2:g.149981504G>A GRCh38
NC_000005.9:g.149361067G>A , CM000667.1:g.149361067G>A GRCh37
NC_000005.8:g.149341260G>A NCBI36
NG_007147.2:g.22622G>A , LRG_684:g.22622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1911G>A MANE Select ENSP00000286298.4:p.Val637=
ENST00000286298.4:c.1911G>A ENSP00000286298.4:p.Val637=
ENST00000503336.1:c.372+3153G>A ENSP00000426053.1:n.372+3153G>A
NM_000112.3:c.1911G>A , LRG_684t1:c.1911G>A NP_000103.2:p.Val637=
XM_017009191.2:c.1911G>A XP_016864680.1:p.Val637=
NM_000112.4:c.1911G>A MANE Select NP_000103.2:p.Val637=
Search 100 bp 5'
Search 100 bp 3'