Canonical Allele Identifier: CA447402555

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 2944497
• ClinVar RCV Id: RCV003808199
• gnomAD v4: 5-149980977-C-T
• MyVariant Identifiers: chr5:g.149360540C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980977C>T , CM000667.2:g.149980977C>T	GRCh38
NC_000005.9:g.149360540C>T , CM000667.1:g.149360540C>T	GRCh37
NC_000005.8:g.149340733C>T	NCBI36
NG_007147.2:g.22095C>T , LRG_684:g.22095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1384C>T MANE Select	ENSP00000286298.4:p.Leu462=
ENST00000286298.4:c.1384C>T	ENSP00000286298.4:p.Leu462=
ENST00000503336.1:c.372+2626C>T	ENSP00000426053.1:n.372+2626C>T
NM_000112.3:c.1384C>T , LRG_684t1:c.1384C>T	NP_000103.2:p.Leu462=
XM_017009191.2:c.1384C>T	XP_016864680.1:p.Leu462=
NM_000112.4:c.1384C>T MANE Select	NP_000103.2:p.Leu462=