Canonical Allele Identifier: CA361705131

Gene: SLC26A2

Linked Data

• COSMIC: COSM1064220
• MyVariant Identifiers: chr5:g.149357721G>T (hg19) ; chr5:g.149978158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149978158G>T , CM000667.2:g.149978158G>T	GRCh38
NC_000005.9:g.149357721G>T , CM000667.1:g.149357721G>T	GRCh37
NC_000005.8:g.149337914G>T	NCBI36
NG_007147.2:g.19276G>T , LRG_684:g.19276G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.738G>T
ENST00000286298.5:c.506G>T MANE Select	ENSP00000286298.4:p.Cys169Phe
ENST00000286298.4:c.506G>T	ENSP00000286298.4:p.Cys169Phe
ENST00000503336.1:c.179G>T	ENSP00000426053.1:p.Cys60Phe
NM_000112.3:c.506G>T , LRG_684t1:c.506G>T	NP_000103.2:p.Cys169Phe
XM_017009191.2:c.506G>T	XP_016864680.1:p.Cys169Phe
NM_000112.4:c.506G>T MANE Select	NP_000103.2:p.Cys169Phe