Canonical Allele Identifier: CA3505486

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352029
• ClinVar RCV Id: RCV000292288 ; RCV000298312 ; RCV000343265 ; RCV000337977 ; RCV000400969 ; RCV001481174
• dbSNP Id: rs745590895
• ExAC: 5:149360917 C / G
• gnomAD v2: 5-149360917-C-G
• gnomAD v4: 5-149981354-C-G
• MyVariant Identifiers: chr5:g.149360917C>G (hg19) ; chr5:g.149981354C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981354C>G , CM000667.2:g.149981354C>G	GRCh38
NC_000005.9:g.149360917C>G , CM000667.1:g.149360917C>G	GRCh37
NC_000005.8:g.149341110C>G	NCBI36
NG_007147.2:g.22472C>G , LRG_684:g.22472C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1761C>G MANE Select	ENSP00000286298.4:p.Leu587=
ENST00000286298.4:c.1761C>G	ENSP00000286298.4:p.Leu587=
ENST00000503336.1:c.372+3003C>G	ENSP00000426053.1:n.372+3003C>G
NM_000112.3:c.1761C>G , LRG_684t1:c.1761C>G	NP_000103.2:p.Leu587=
XM_017009191.2:c.1761C>G	XP_016864680.1:p.Leu587=
NM_000112.4:c.1761C>G MANE Select	NP_000103.2:p.Leu587=