Canonical Allele Identifier: CA263272

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 56026
• ClinVar RCV Id: RCV000049435 ; RCV000780714 ; RCV001853039
• dbSNP Id: rs386833507
• gnomAD v4: 5-149977707-G-T
• MyVariant Identifiers: chr5:g.149357270G>T (hg19) ; chr5:g.149977707G>T (hg38)
• PubMed: PMID:11241838

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977707G>T , CM000667.2:g.149977707G>T	GRCh38
NC_000005.9:g.149357270G>T , CM000667.1:g.149357270G>T	GRCh37
NC_000005.8:g.149337463G>T	NCBI36
NG_007147.2:g.18825G>T , LRG_684:g.18825G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.287G>T
ENST00000286298.5:c.55G>T MANE Select	ENSP00000286298.4:p.Gly19Ter
ENST00000286298.4:c.55G>T	ENSP00000286298.4:p.Gly19Ter
ENST00000433184.1:c.55G>T	ENSP00000405496.1:p.Gly19Ter
NM_000112.3:c.55G>T , LRG_684t1:c.55G>T	NP_000103.2:p.Gly19Ter
XM_017009191.2:c.55G>T	XP_016864680.1:p.Gly19Ter
NM_000112.4:c.55G>T MANE Select	NP_000103.2:p.Gly19Ter