Canonical Allele Identifier: CA116646

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 4096
• ClinVar RCV Id: RCV000004311 ; RCV000055758
• dbSNP Id: rs104893921
• gnomAD v3: 5-149980954-A-C
• gnomAD v4: 5-149980954-A-C
• MyVariant Identifiers: chr5:g.149360517A>C (hg19) ; chr5:g.149980954A>C (hg38)
• PubMed: PMID:702237 ; PMID:8723083 ; PMID:10466420 ; PMID:12220459 ; PMID:20301524

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980954A>C , CM000667.2:g.149980954A>C	GRCh38
NC_000005.9:g.149360517A>C , CM000667.1:g.149360517A>C	GRCh37
NC_000005.8:g.149340710A>C	NCBI36
NG_007147.2:g.22072A>C , LRG_684:g.22072A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1361A>C MANE Select	ENSP00000286298.4:p.Gln454Pro
ENST00000286298.4:c.1361A>C	ENSP00000286298.4:p.Gln454Pro
ENST00000503336.1:c.372+2603A>C	ENSP00000426053.1:n.372+2603A>C
NM_000112.3:c.1361A>C , LRG_684t1:c.1361A>C	NP_000103.2:p.Gln454Pro
XM_017009191.2:c.1361A>C	XP_016864680.1:p.Gln454Pro
NM_000112.4:c.1361A>C MANE Select	NP_000103.2:p.Gln454Pro