Canonical Allele Identifier: CA252990

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 4089
• ClinVar RCV Id: RCV000004305 ; RCV000004306 ; RCV000004307 ; RCV000266165 ; RCV000275762 ; RCV000624686 ; RCV000641290 ; RCV000586600 ; RCV000999764 ; RCV001030752 ; RCV001030753 ; RCV002276530
• dbSNP Id: rs104893915
• ExAC: 5:149359991 C / T
• gnomAD v2: 5-149359991-C-T
• gnomAD v3: 5-149980428-C-T
• gnomAD v4: 5-149980428-C-T
• MyVariant Identifiers: chr5:g.149359991C>T (hg19) ; chr5:g.149980428C>T (hg38)
• PubMed: PMID:8571951 ; PMID:8931695 ; PMID:9342225 ; PMID:10465113 ; PMID:11241838 ; PMID:11303514 ; PMID:11448940 ; PMID:11565064 ; PMID:12525546 ; PMID:15294877 ; PMID:15316973 ; PMID:20219950 ; PMID:20301524 ; PMID:21077202 ; PMID:21155763 ; PMID:24598000 ; PMID:27065010

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980428C>T , CM000667.2:g.149980428C>T	GRCh38
NC_000005.9:g.149359991C>T , CM000667.1:g.149359991C>T	GRCh37
NC_000005.8:g.149340184C>T	NCBI36
NG_007147.2:g.21546C>T , LRG_684:g.21546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.835C>T MANE Select	ENSP00000286298.4:p.Arg279Trp
ENST00000286298.4:c.835C>T	ENSP00000286298.4:p.Arg279Trp
ENST00000503336.1:c.372+2077C>T	ENSP00000426053.1:n.372+2077C>T
NM_000112.3:c.835C>T , LRG_684t1:c.835C>T	NP_000103.2:p.Arg279Trp
XM_017009191.2:c.835C>T	XP_016864680.1:p.Arg279Trp
NM_000112.4:c.835C>T MANE Select	NP_000103.2:p.Arg279Trp