Canonical Allele Identifier: CA340160

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 4097
• ClinVar RCV Id: RCV000004312 ; RCV000597319 ; RCV000724163 ; RCV000763135 ; RCV000779466 ; RCV000780711 ; RCV000991163 ; RCV001030745 ; RCV001030744
• dbSNP Id: rs386833492
• gnomAD v2: 5-149340544-T-C
• gnomAD v3: 5-149960981-T-C
• gnomAD v4: 5-149960981-T-C
• MyVariant Identifiers: chr5:g.149340544T>C (hg19) ; chr5:g.149960981T>C (hg38)
• PubMed: PMID:10482955 ; PMID:18708426 ; PMID:20301524 ; PMID:21077202

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149960981T>C , CM000667.2:g.149960981T>C	GRCh38
NC_000005.9:g.149340544T>C , CM000667.1:g.149340544T>C	GRCh37
NC_000005.8:g.149320737T>C	NCBI36
NG_007147.2:g.2099T>C , LRG_684:g.2099T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.207+2T>C
ENST00000286298.5:c.-26+2T>C MANE Select	ENSP00000286298.4:n.-26+2T>C
ENST00000286298.4:c.-26+2T>C	ENSP00000286298.4:n.-26+2T>C
ENST00000433184.1:c.-306+2T>C	ENSP00000405496.1:n.-306+2T>C
NM_000112.3:c.-26+2T>C , LRG_684t1:c.-26+2T>C	NP_000103.2:n.-26+2T>C
XM_017009191.2:c.-26+2T>C	XP_016864680.1:n.-26+2T>C
NM_000112.4:c.-26+2T>C MANE Select	NP_000103.2:n.-26+2T>C