Canonical Allele Identifier: CA216019

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 64383
• ClinVar RCV Id: RCV000054570 ; RCV001069051 ; RCV001271550 ; RCV004018969
• dbSNP Id: rs369318758
• ExAC: 5:149357387 C / T
• gnomAD v2: 5-149357387-C-T
• gnomAD v3: 5-149977824-C-T
• gnomAD v4: 5-149977824-C-T
• COSMIC: COSM1064217
• MyVariant Identifiers: chr5:g.149357387C>T (hg19) ; chr5:g.149977824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977824C>T , CM000667.2:g.149977824C>T	GRCh38
NC_000005.9:g.149357387C>T , CM000667.1:g.149357387C>T	GRCh37
NC_000005.8:g.149337580C>T	NCBI36
NG_007147.2:g.18942C>T , LRG_684:g.18942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.404C>T
ENST00000286298.5:c.172C>T MANE Select	ENSP00000286298.4:p.Arg58Cys
ENST00000286298.4:c.172C>T	ENSP00000286298.4:p.Arg58Cys
NM_000112.3:c.172C>T , LRG_684t1:c.172C>T	NP_000103.2:p.Arg58Cys
XM_017009191.2:c.172C>T	XP_016864680.1:p.Arg58Cys
NM_000112.4:c.172C>T MANE Select	NP_000103.2:p.Arg58Cys