Canonical Allele Identifier: CA263275

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 56027
• ClinVar RCV Id: RCV000049436 ; RCV000169177 ; RCV001264500 ; RCV002496723 ; RCV003474629
• dbSNP Id: rs200963884
• gnomAD v3: 5-149980292-G-C
• gnomAD v4: 5-149980292-G-C
• MyVariant Identifiers: chr5:g.149359855G>C (hg19) ; chr5:g.149980292G>C (hg38)
• PubMed: PMID:7923357 ; PMID:8702127 ; PMID:8723100 ; PMID:21155763

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980292G>C , CM000667.2:g.149980292G>C	GRCh38
NC_000005.9:g.149359855G>C , CM000667.1:g.149359855G>C	GRCh37
NC_000005.8:g.149340048G>C	NCBI36
NG_007147.2:g.21410G>C , LRG_684:g.21410G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.700-1G>C MANE Select	ENSP00000286298.4:n.700-1G>C
ENST00000286298.4:c.700-1G>C	ENSP00000286298.4:n.700-1G>C
ENST00000503336.1:c.372+1941G>C	ENSP00000426053.1:n.372+1941G>C
NM_000112.3:c.700-1G>C , LRG_684t1:c.700-1G>C	NP_000103.2:n.700-1G>C
XM_017009191.2:c.700-1G>C	XP_016864680.1:n.700-1G>C
NM_000112.4:c.700-1G>C MANE Select	NP_000103.2:n.700-1G>C