Canonical Allele Identifier: CA361706412
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1186947774
gnomAD v3: 5-149980438-G-T
gnomAD v4: 5-149980438-G-T
MyVariant Identifiers: chr5:g.149360001G>T (hg19) chr5:g.149980438G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980438G>T , CM000667.2:g.149980438G>T GRCh38
NC_000005.9:g.149360001G>T , CM000667.1:g.149360001G>T GRCh37
NC_000005.8:g.149340194G>T NCBI36
NG_007147.2:g.21556G>T , LRG_684:g.21556G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.845G>T MANE Select ENSP00000286298.4:p.Gly282Val
ENST00000286298.4:c.845G>T ENSP00000286298.4:p.Gly282Val
ENST00000503336.1:c.372+2087G>T ENSP00000426053.1:n.372+2087G>T
NM_000112.3:c.845G>T , LRG_684t1:c.845G>T NP_000103.2:p.Gly282Val
XM_017009191.2:c.845G>T XP_016864680.1:p.Gly282Val
NM_000112.4:c.845G>T MANE Select NP_000103.2:p.Gly282Val
Search 100 bp 5'
Search 100 bp 3'