Canonical Allele Identifier: CA129082932

Gene: SLC26A2

Linked Data

• dbSNP Id: rs1033897959
• MyVariant Identifiers: chr5:g.149358155G>T (hg19) ; chr5:g.149978592G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149978592G>T , CM000667.2:g.149978592G>T	GRCh38
NC_000005.9:g.149358155G>T , CM000667.1:g.149358155G>T	GRCh37
NC_000005.8:g.149338348G>T	NCBI36
NG_007147.2:g.19710G>T , LRG_684:g.19710G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.1172G>T
ENST00000286298.5:c.699+241G>T MANE Select	ENSP00000286298.4:n.699+241G>T
ENST00000286298.4:c.699+241G>T	ENSP00000286298.4:n.699+241G>T
ENST00000503336.1:c.372+241G>T	ENSP00000426053.1:n.372+241G>T
NM_000112.3:c.699+241G>T , LRG_684t1:c.699+241G>T	NP_000103.2:n.699+241G>T
XM_017009191.2:c.699+241G>T	XP_016864680.1:n.699+241G>T
NM_000112.4:c.699+241G>T MANE Select	NP_000103.2:n.699+241G>T