Canonical Allele Identifier: CA361709507
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1994865
ClinVar RCV Id: RCV002791447
gnomAD v4: 5-149981550-T-G
MyVariant Identifiers: chr5:g.149361113T>G (hg19) chr5:g.149981550T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981550T>G , CM000667.2:g.149981550T>G GRCh38
NC_000005.9:g.149361113T>G , CM000667.1:g.149361113T>G GRCh37
NC_000005.8:g.149341306T>G NCBI36
NG_007147.2:g.22668T>G , LRG_684:g.22668T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1957T>G MANE Select ENSP00000286298.4:p.Cys653Gly
ENST00000286298.4:c.1957T>G ENSP00000286298.4:p.Cys653Gly
ENST00000503336.1:c.372+3199T>G ENSP00000426053.1:n.372+3199T>G
NM_000112.3:c.1957T>G , LRG_684t1:c.1957T>G NP_000103.2:p.Cys653Gly
XM_017009191.2:c.1957T>G XP_016864680.1:p.Cys653Gly
NM_000112.4:c.1957T>G MANE Select NP_000103.2:p.Cys653Gly
Search 100 bp 5'
Search 100 bp 3'