Canonical Allele Identifier: CA447402600

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 2932483
• ClinVar RCV Id: RCV003795697
• dbSNP Id: rs1755034130
• MyVariant Identifiers: chr5:g.149357887T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149978324T>C , CM000667.2:g.149978324T>C	GRCh38
NC_000005.9:g.149357887T>C , CM000667.1:g.149357887T>C	GRCh37
NC_000005.8:g.149338080T>C	NCBI36
NG_007147.2:g.19442T>C , LRG_684:g.19442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.904T>C
ENST00000286298.5:c.672T>C MANE Select	ENSP00000286298.4:p.Thr224=
ENST00000286298.4:c.672T>C	ENSP00000286298.4:p.Thr224=
ENST00000503336.1:c.345T>C	ENSP00000426053.1:p.Thr115=
NM_000112.3:c.672T>C , LRG_684t1:c.672T>C	NP_000103.2:p.Thr224=
XM_017009191.2:c.672T>C	XP_016864680.1:p.Thr224=
NM_000112.4:c.672T>C MANE Select	NP_000103.2:p.Thr224=